메뉴 건너뛰기




Volumn 34, Issue 2, 2010, Pages 134-144

History and Current Status of Newborn Screening for Hemoglobinopathies

Author keywords

hemoglobinopathies; history; newborn screening; sickle cell disease

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN S; ORAL CONTRACEPTIVE AGENT; PENICILLIN G;

EID: 77649123122     PISSN: 01460005     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.semperi.2009.12.006     Document Type: Review
Times cited : (110)

References (131)
  • 1
    • 37049238400 scopus 로고
    • A system of nomenclature for the varieties of human hemoglobin
    • Chernoff A.I., Fisher B., Harris J.W., et al. A system of nomenclature for the varieties of human hemoglobin. Science 118 (1953) 116-117
    • (1953) Science , vol.118 , pp. 116-117
    • Chernoff, A.I.1    Fisher, B.2    Harris, J.W.3
  • 2
    • 33846045774 scopus 로고    scopus 로고
    • HbVar database of human hemoglobin variants and thalassemia mutations: 2007 Update
    • 206-206
    • Giardine B., van Baal S., Kaimakis P., et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 Update. Hum Mutat 28 (2007) 206-206
    • (2007) Hum Mutat , vol.28
    • Giardine, B.1    van Baal, S.2    Kaimakis, P.3
  • 3
    • 33845967706 scopus 로고    scopus 로고
    • Toward a uniform screening panel and system
    • Newborn screening
    • Newborn screening. Toward a uniform screening panel and system. Genet Med 8 suppl 1 (2006) 1S-252S
    • (2006) Genet Med , vol.8 , Issue.SUPPL. 1
  • 4
    • 0024414707 scopus 로고
    • Alpha thalassemia. A modifier of sickle cell disease
    • Embury S.H. Alpha thalassemia. A modifier of sickle cell disease. Ann NY Acad Sci 565 (1989) 213-221
    • (1989) Ann NY Acad Sci , vol.565 , pp. 213-221
    • Embury, S.H.1
  • 5
    • 42049105635 scopus 로고    scopus 로고
    • Genetic modifiers of the beta-haemoglobinopathies
    • Thein S.L. Genetic modifiers of the beta-haemoglobinopathies. Br J Haematol 141 (2008) 357-366
    • (2008) Br J Haematol , vol.141 , pp. 357-366
    • Thein, S.L.1
  • 6
    • 0021335012 scopus 로고
    • Concurrent sickle cell anemia and alpha-thalassemia. Effect on pathological properties of sickle erythrocytes
    • Embury S.H., Clark M.R., Monroy G., et al. Concurrent sickle cell anemia and alpha-thalassemia. Effect on pathological properties of sickle erythrocytes. J Clin Invest 73 (1984) 116-123
    • (1984) J Clin Invest , vol.73 , pp. 116-123
    • Embury, S.H.1    Clark, M.R.2    Monroy, G.3
  • 7
    • 84948982946 scopus 로고    scopus 로고
    • The alpha thalassemias and their interaction with structural haemoglobin variants
    • Weatherall D.J., and Clegg J.B. (Eds), Blackwell, Science, Inc, Malden, MA
    • Gibbons R., Higgs D.R., Olivieri N.F., et al. The alpha thalassemias and their interaction with structural haemoglobin variants. In: Weatherall D.J., and Clegg J.B. (Eds). The Thalassemia Syndromes (2001), Blackwell, Science, Inc, Malden, MA 484-525
    • (2001) The Thalassemia Syndromes , pp. 484-525
    • Gibbons, R.1    Higgs, D.R.2    Olivieri, N.F.3
  • 8
    • 0027211895 scopus 로고
    • Noguchi L., Schechter A.N., Rodgers G.P., Higgs D.R., and Weatherall D.J. (Eds), Bailliere Tindall, London
    • In: Noguchi L., Schechter A.N., Rodgers G.P., Higgs D.R., and Weatherall D.J. (Eds). Bailliere's Clinical Hematology: The Hemoglobinopathies (6) (1993), Bailliere Tindall, London 57-91
    • (1993) Bailliere's Clinical Hematology: The Hemoglobinopathies (6) , pp. 57-91
  • 9
    • 0014216039 scopus 로고
    • Structure and properties of hemoglobin C-Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the beta-polypeptide chain
    • Bookchin R.M., Nagel R.L., and Ranney H.M. Structure and properties of hemoglobin C-Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the beta-polypeptide chain. J Biol Chem 242 (1967) 248-255
    • (1967) J Biol Chem , vol.242 , pp. 248-255
    • Bookchin, R.M.1    Nagel, R.L.2    Ranney, H.M.3
  • 10
    • 0017412345 scopus 로고
    • Hemoglobin S Travis: a sickling hemoglobin with two amino acid substitutions [beta6(A3)glutamic acid leads to valine and beta142 (h20) alanine leads to valine)
    • Moo-Penn W.F., Schmidt R.M., Jue D.L., et al. Hemoglobin S Travis: a sickling hemoglobin with two amino acid substitutions [beta6(A3)glutamic acid leads to valine and beta142 (h20) alanine leads to valine). Eur J Biochem 77 (1977) 561-566
    • (1977) Eur J Biochem , vol.77 , pp. 561-566
    • Moo-Penn, W.F.1    Schmidt, R.M.2    Jue, D.L.3
  • 11
    • 0016834459 scopus 로고
    • The presence of hemoglobin S and C Harlem in an individual in the United States
    • Moo-Penn W., Bechtel K., Jue D., et al. The presence of hemoglobin S and C Harlem in an individual in the United States. Blood 46 (1975) 363-367
    • (1975) Blood , vol.46 , pp. 363-367
    • Moo-Penn, W.1    Bechtel, K.2    Jue, D.3
  • 12
    • 0008782105 scopus 로고
    • The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease
    • Aksoy M. The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease. Blood 15 (1960) 610-613
    • (1960) Blood , vol.15 , pp. 610-613
    • Aksoy, M.1
  • 13
    • 14844353502 scopus 로고
    • Studies on abnormal hemoglobins. XI. Sickle cell-thalassemia disease in the Negro; the significance of the S + A + F and S + A patterns obtained by hemoglobin analysis
    • Singer K., Singer L., and Goldberg S.R. Studies on abnormal hemoglobins. XI. Sickle cell-thalassemia disease in the Negro; the significance of the S + A + F and S + A patterns obtained by hemoglobin analysis. Blood 10 (1955) 405-415
    • (1955) Blood , vol.10 , pp. 405-415
    • Singer, K.1    Singer, L.2    Goldberg, S.R.3
  • 14
    • 49549085453 scopus 로고    scopus 로고
    • Hemoglobin E Syndromes
    • Vichinsky E. Hemoglobin E Syndromes. Hematology (2007) 79-83
    • (2007) Hematology , pp. 79-83
    • Vichinsky, E.1
  • 15
    • 57749099915 scopus 로고    scopus 로고
    • Pathophysiology of {beta} thalassemia-A Guide to molecular therapies
    • Thein S.L. Pathophysiology of {beta} thalassemia-A Guide to molecular therapies. Hematology (2005) 31-37
    • (2005) Hematology , pp. 31-37
    • Thein, S.L.1
  • 16
    • 0021931288 scopus 로고
    • Hemoglobin S polymerization: primary determinant of the hemolytic and clinical severity of the sickling syndromes
    • Brittenham G., Schechter A., and Noguchi C. Hemoglobin S polymerization: primary determinant of the hemolytic and clinical severity of the sickling syndromes. Blood 65 (1985) 183-189
    • (1985) Blood , vol.65 , pp. 183-189
    • Brittenham, G.1    Schechter, A.2    Noguchi, C.3
  • 17
    • 0034897892 scopus 로고    scopus 로고
    • Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910
    • Herrick J.B. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910. Yale J Biol Med 74 (2001) 179-184
    • (2001) Yale J Biol Med , vol.74 , pp. 179-184
    • Herrick, J.B.1
  • 18
    • 17144421050 scopus 로고
    • A rapid diagnostic test for sickle cell anemia
    • Itano H.A., and Pauling L. A rapid diagnostic test for sickle cell anemia. Blood 4 (1949) 66-68
    • (1949) Blood , vol.4 , pp. 66-68
    • Itano, H.A.1    Pauling, L.2
  • 19
    • 2342458084 scopus 로고
    • Sickle cell anemia, a molecular disease
    • Pauling L., and Itano H.A. Sickle cell anemia, a molecular disease. Science 109 (1949) 443
    • (1949) Science , vol.109 , pp. 443
    • Pauling, L.1    Itano, H.A.2
  • 20
    • 0015145263 scopus 로고
    • Automated dithionite test for rapid, inexpensive detection of hemoglobin S and non-S sickling hemoglobinopathies
    • Nalbandian R.M., Nichols B.M., Camp Jr. F.R., et al. Automated dithionite test for rapid, inexpensive detection of hemoglobin S and non-S sickling hemoglobinopathies. Clin Chem 17 (1971) 1033-1037
    • (1971) Clin Chem , vol.17 , pp. 1033-1037
    • Nalbandian, R.M.1    Nichols, B.M.2    Camp Jr., F.R.3
  • 21
    • 0014102102 scopus 로고
    • Structure of sickle cell hemoglobin and molecular mechanism of the sickling phenomenon
    • Murayama M. Structure of sickle cell hemoglobin and molecular mechanism of the sickling phenomenon. Clin Chem 13 (1967) 578-588
    • (1967) Clin Chem , vol.13 , pp. 578-588
    • Murayama, M.1
  • 22
    • 0014882876 scopus 로고
    • Molecular basis for a simple, specific test for S hemoglobin: the Murayama test
    • Nalbandian R.M., Henry R.L., Nichols B.M., et al. Molecular basis for a simple, specific test for S hemoglobin: the Murayama test. Clin Chem 16 (1970) 945-950
    • (1970) Clin Chem , vol.16 , pp. 945-950
    • Nalbandian, R.M.1    Henry, R.L.2    Nichols, B.M.3
  • 23
    • 0015840329 scopus 로고
    • Standardization in detection of abnormal hemoglobins. Solubility tests for hemoglobin S
    • Schmidt R.M., and Wilson S.M. Standardization in detection of abnormal hemoglobins. Solubility tests for hemoglobin S. JAMA 225 (1973) 1225-1230
    • (1973) JAMA , vol.225 , pp. 1225-1230
    • Schmidt, R.M.1    Wilson, S.M.2
  • 24
    • 0345582990 scopus 로고
    • Zone electrophoresis in starch gels: Group variations in the serum proteins of normal human adults
    • Smithies O. Zone electrophoresis in starch gels: Group variations in the serum proteins of normal human adults. Biochem J 61 (1955) 629-641
    • (1955) Biochem J , vol.61 , pp. 629-641
    • Smithies, O.1
  • 25
    • 0014449746 scopus 로고
    • Separation of haemoglobins on cellulose acetate
    • Kohn J. Separation of haemoglobins on cellulose acetate. J Clin Pathol 22 (1969) 109-111
    • (1969) J Clin Pathol , vol.22 , pp. 109-111
    • Kohn, J.1
  • 26
    • 0019309541 scopus 로고
    • Electrophoretic methods in hemoglobin identifications
    • Schneider R.G. Electrophoretic methods in hemoglobin identifications. Hemoglobin 4 (1980) 521-526
    • (1980) Hemoglobin , vol.4 , pp. 521-526
    • Schneider, R.G.1
  • 27
    • 0013855204 scopus 로고
    • An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore)
    • Clegg J.B., Naughton M.A., and Weatherall D.J. An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore). Nature 207 (1965) 945-947
    • (1965) Nature , vol.207 , pp. 945-947
    • Clegg, J.B.1    Naughton, M.A.2    Weatherall, D.J.3
  • 28
    • 0015231799 scopus 로고
    • The separation of human and animal hemoglobins by isoelectric focusing in polyacrylamide gel
    • Drysdale J.W., Righetti P., and Bunn H.F. The separation of human and animal hemoglobins by isoelectric focusing in polyacrylamide gel. Biochim Biophys Acta 229 (1971) 42-50
    • (1971) Biochim Biophys Acta , vol.229 , pp. 42-50
    • Drysdale, J.W.1    Righetti, P.2    Bunn, H.F.3
  • 29
    • 0015524317 scopus 로고
    • Isoelectric focusing of proteins in polyacrylamide gels
    • Vesterberg O. Isoelectric focusing of proteins in polyacrylamide gels. Biochim Biophys Acta 257 (1972) 11-19
    • (1972) Biochim Biophys Acta , vol.257 , pp. 11-19
    • Vesterberg, O.1
  • 30
    • 0015294685 scopus 로고
    • The diagnosis of sickle cell disease in the newborn infant
    • Huntsman R.G., Metters J.S., and Yawson G.I. The diagnosis of sickle cell disease in the newborn infant. J Pediatr 80 (1972) 279-281
    • (1972) J Pediatr , vol.80 , pp. 279-281
    • Huntsman, R.G.1    Metters, J.S.2    Yawson, G.I.3
  • 31
    • 0015923083 scopus 로고
    • Sickle-cell anemia and other hemoglobinopathies. Procedures and strategy for screening employing spots of blood on filter paper as specimens
    • Garrick M.D., Dembure P., and Guthrie R. Sickle-cell anemia and other hemoglobinopathies. Procedures and strategy for screening employing spots of blood on filter paper as specimens. N Engl J Med 288 (1973) 1265-1268
    • (1973) N Engl J Med , vol.288 , pp. 1265-1268
    • Garrick, M.D.1    Dembure, P.2    Guthrie, R.3
  • 32
    • 77649123337 scopus 로고
    • New York Public Health Laws 2500, Chap 943, pp
    • New York Public Health Laws 2500, in McKinney's Session Laws of New York, Chap 943, pp 1490 (1974)
    • (1974) McKinney's Session Laws of New York , pp. 1490
  • 33
    • 77649123337 scopus 로고
    • New York Public Health Laws 2500, Chap 1015, sect 1, pp
    • New York Public Health Laws 2500, in McKinney's Session Laws of New York, Chap 1015, sect 1, pp 1624 (1974)
    • (1974) McKinney's Session Laws of New York , pp. 1624
  • 34
    • 77649084028 scopus 로고
    • Newborn screening for sickle cell disease
    • Carter T.P., and Wiley A.M. (Eds), Alan R. Liss, New York, NY
    • Pass K.A., Gauvreau A.C., Schedlbauer L., et al. Newborn screening for sickle cell disease. In: Carter T.P., and Wiley A.M. (Eds). Genetic Disease Screening and Management (1986), Alan R. Liss, New York, NY 359-372
    • (1986) Genetic Disease Screening and Management , pp. 359-372
    • Pass, K.A.1    Gauvreau, A.C.2    Schedlbauer, L.3
  • 35
    • 0021262756 scopus 로고
    • Isoelectric focusing in agarose gel for detection and identification of hemoglobin variants
    • Black J. Isoelectric focusing in agarose gel for detection and identification of hemoglobin variants. Hemoglobin 8 (1984) 117-127
    • (1984) Hemoglobin , vol.8 , pp. 117-127
    • Black, J.1
  • 36
    • 0030809621 scopus 로고    scopus 로고
    • Capillary isoelectric focusing of hemoglobin variants in the pediatric clinical laboratory
    • Hempe J.M., Granger J.N., and Craver R.D. Capillary isoelectric focusing of hemoglobin variants in the pediatric clinical laboratory. Electrophoresis 18 (1997) 1785-1795
    • (1997) Electrophoresis , vol.18 , pp. 1785-1795
    • Hempe, J.M.1    Granger, J.N.2    Craver, R.D.3
  • 37
    • 0028149266 scopus 로고
    • Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2. 2 Million screens
    • Lorey F., Cunningham G., Shafer F., et al. Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2. 2 Million screens. Eur J Hum Genet 2 (1994) 262-271
    • (1994) Eur J Hum Genet , vol.2 , pp. 262-271
    • Lorey, F.1    Cunningham, G.2    Shafer, F.3
  • 38
    • 62449272809 scopus 로고    scopus 로고
    • Newborn screening for hemoglobinopathies in California
    • Michlitsch J., Azimi M., Hoppe C., et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer 52 (2009) 486-490
    • (2009) Pediatr Blood Cancer , vol.52 , pp. 486-490
    • Michlitsch, J.1    Azimi, M.2    Hoppe, C.3
  • 39
    • 0015178491 scopus 로고
    • Sickle cell anemia in the home environment. Observations on the natural history of the disease in Tennessee children
    • Diggs L.W., and Flowers E. Sickle cell anemia in the home environment. Observations on the natural history of the disease in Tennessee children. Clin Pediatr 10 (1971) 697-700
    • (1971) Clin Pediatr , vol.10 , pp. 697-700
    • Diggs, L.W.1    Flowers, E.2
  • 40
    • 0000192487 scopus 로고
    • The inheritance of sickle cell anemia
    • Neel J.V. The inheritance of sickle cell anemia. Science 110 (1949) 64-66
    • (1949) Science , vol.110 , pp. 64-66
    • Neel, J.V.1
  • 41
    • 0001612986 scopus 로고
    • The genetics of sickle cell trait in a Bantu tribe
    • Beet E.A. The genetics of sickle cell trait in a Bantu tribe. Ann Eugen 14 (1949) 279-284
    • (1949) Ann Eugen , vol.14 , pp. 279-284
    • Beet, E.A.1
  • 42
    • 1842337282 scopus 로고
    • Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin
    • Ingram V.M. Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature 180 (1957) 326-328
    • (1957) Nature , vol.180 , pp. 326-328
    • Ingram, V.M.1
  • 43
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie R., and Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32 (1963) 338-343
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 44
    • 76549165491 scopus 로고
    • The hemoglobin molecule
    • Perutz M.F. The hemoglobin molecule. Sci Am 211 (1964) 64-76
    • (1964) Sci Am , vol.211 , pp. 64-76
    • Perutz, M.F.1
  • 45
    • 0014963910 scopus 로고
    • Health care priority and sickle cell anemia
    • Scott R.B. Health care priority and sickle cell anemia. JAMA 214 (1970) 731-734
    • (1970) JAMA , vol.214 , pp. 731-734
    • Scott, R.B.1
  • 46
    • 0014945886 scopus 로고
    • Sickle-cell anemia-High prevalence and low priority
    • Scott R.B. Sickle-cell anemia-High prevalence and low priority. N Engl J Med 282 (1970) 164-165
    • (1970) N Engl J Med , vol.282 , pp. 164-165
    • Scott, R.B.1
  • 47
    • 0014972156 scopus 로고
    • A commentary on sickle cell disease
    • passim
    • Scott R.B. A commentary on sickle cell disease. J Natl Med Assoc 63 (1971) 1-2 passim
    • (1971) J Natl Med Assoc , vol.63 , pp. 1-2
    • Scott, R.B.1
  • 48
    • 84967351146 scopus 로고    scopus 로고
    • Sickle cell disease: Demystifying the beginnings
    • Pace B.S. (Ed), World Scientific, London, Great Britain
    • Reid C., and Rodgers G. Sickle cell disease: Demystifying the beginnings. In: Pace B.S. (Ed). Renaissance of Sickle Cell Disease Research in the Genomic Era (2007), World Scientific, London, Great Britain 1-12
    • (2007) Renaissance of Sickle Cell Disease Research in the Genomic Era , pp. 1-12
    • Reid, C.1    Rodgers, G.2
  • 49
    • 0016097518 scopus 로고
    • Hemoglobinopathy screening: approaches to diagnosis, education and counseling
    • Schmidt R.M. Hemoglobinopathy screening: approaches to diagnosis, education and counseling. Am J Public Health 64 (1974) 799-804
    • (1974) Am J Public Health , vol.64 , pp. 799-804
    • Schmidt, R.M.1
  • 52
    • 0016280981 scopus 로고
    • Evaluation of proficiency in the performance of tests for abnormal hemoglobins
    • Schmidt R.M., and Brosious E.M. Evaluation of proficiency in the performance of tests for abnormal hemoglobins. Am J Clin Pathol 62 (1974) 664-669
    • (1974) Am J Clin Pathol , vol.62 , pp. 664-669
    • Schmidt, R.M.1    Brosious, E.M.2
  • 53
    • 77649100475 scopus 로고    scopus 로고
    • Improving and assuring newborn screening laboratory quality worldwide: Thirty-year experience at the Centers for Disease Control and Prevention
    • in press
    • deJesus VR, Mei JV, Bell CJ, et al: Improving and assuring newborn screening laboratory quality worldwide: thirty-year experience at the Centers for Disease Control and Prevention. Semin Perinatol (in press)
    • Semin Perinatol
    • deJesus, V.R.1    Mei, J.V.2    Bell, C.J.3
  • 54
    • 0016256113 scopus 로고
    • Evaluation of a solubility test kit and an automated machine for detecting hemoglobin S
    • Wilson S.M., and Schmidt R.M. Evaluation of a solubility test kit and an automated machine for detecting hemoglobin S. Clin Chem 20 (1974) 1138-1140
    • (1974) Clin Chem , vol.20 , pp. 1138-1140
    • Wilson, S.M.1    Schmidt, R.M.2
  • 55
    • 0016121661 scopus 로고
    • Quantitation of fetal hemoglobin by densitometry
    • Schmidt R.M., Brosious E.M., and Holland S. Quantitation of fetal hemoglobin by densitometry. J Lab Clin Med 84 (1974) 740-745
    • (1974) J Lab Clin Med , vol.84 , pp. 740-745
    • Schmidt, R.M.1    Brosious, E.M.2    Holland, S.3
  • 56
    • 0016249675 scopus 로고
    • Standardization in abnormal hemoglobin detection. An evaluation of hemoglobin electrophoresis kits
    • Schmidt R.M., and Holland S. Standardization in abnormal hemoglobin detection. An evaluation of hemoglobin electrophoresis kits. Clin Chem 20 (1974) 591-594
    • (1974) Clin Chem , vol.20 , pp. 591-594
    • Schmidt, R.M.1    Holland, S.2
  • 57
    • 0017201583 scopus 로고
    • Effects of hemoglobin F levels, KCN, and storage on the isopropanol precipitation test for unstable hemoglobins
    • Brosious E.M., Morrison B.Y., and Schmidt R.M. Effects of hemoglobin F levels, KCN, and storage on the isopropanol precipitation test for unstable hemoglobins. Am J Clin Pathol 66 (1976) 878-882
    • (1976) Am J Clin Pathol , vol.66 , pp. 878-882
    • Brosious, E.M.1    Morrison, B.Y.2    Schmidt, R.M.3
  • 58
    • 0018180527 scopus 로고
    • Microchromatographic methods for hemoglobin A2 quantitation compared
    • Brosious E.M., Wright J.M., Baine R.M., et al. Microchromatographic methods for hemoglobin A2 quantitation compared. Clin Chem 24 (1978) 2196-2199
    • (1978) Clin Chem , vol.24 , pp. 2196-2199
    • Brosious, E.M.1    Wright, J.M.2    Baine, R.M.3
  • 59
    • 0018666944 scopus 로고
    • Quantitation of hemoglobin F. An interlaboratory study
    • Brosious E.M., and Schmidt R.M. Quantitation of hemoglobin F. An interlaboratory study. Am J Clin Pathol 72 (1979) 421-425
    • (1979) Am J Clin Pathol , vol.72 , pp. 421-425
    • Brosious, E.M.1    Schmidt, R.M.2
  • 60
    • 0015881399 scopus 로고
    • Laboratory diagnosis of hemoglobinopathies
    • Schmidt R.M. Laboratory diagnosis of hemoglobinopathies. JAMA 224 (1973) 1276-1280
    • (1973) JAMA , vol.224 , pp. 1276-1280
    • Schmidt, R.M.1
  • 61
    • 0016708407 scopus 로고
    • Comparison of methodologies for thalassemia screening by Hb A2 quantitation
    • Schmidt R.M., Rucknagel D.L., and Necheles T.F. Comparison of methodologies for thalassemia screening by Hb A2 quantitation. J Lab Clin Med 86 (1975) 873-882
    • (1975) J Lab Clin Med , vol.86 , pp. 873-882
    • Schmidt, R.M.1    Rucknagel, D.L.2    Necheles, T.F.3
  • 62
    • 0017160418 scopus 로고
    • Use of blood specimens collected on filter paper in screening for abnormal hemoglobins
    • Schmidt R.M., Brosious E.M., Holland S., et al. Use of blood specimens collected on filter paper in screening for abnormal hemoglobins. Clin Chem 22 (1976) 685-687
    • (1976) Clin Chem , vol.22 , pp. 685-687
    • Schmidt, R.M.1    Brosious, E.M.2    Holland, S.3
  • 63
    • 0019499974 scopus 로고
    • Evaluation of a commercial kit for microchromatographic quantitation of hemoglobin A2 in the presence of hemoglobin S
    • Baine R.M., and Brown H.G. Evaluation of a commercial kit for microchromatographic quantitation of hemoglobin A2 in the presence of hemoglobin S. Clin Chem 27 (1981) 1244-1247
    • (1981) Clin Chem , vol.27 , pp. 1244-1247
    • Baine, R.M.1    Brown, H.G.2
  • 64
    • 0016594105 scopus 로고
    • Microchromatography of hemoglobins. II. A simplified procedure for the determination of hemoglobin A2
    • Huisman T.H., Schroeder W.A., Brodie A.N., et al. Microchromatography of hemoglobins. II. A simplified procedure for the determination of hemoglobin A2. J Lab Clin Med 86 (1975) 700-702
    • (1975) J Lab Clin Med , vol.86 , pp. 700-702
    • Huisman, T.H.1    Schroeder, W.A.2    Brodie, A.N.3
  • 65
    • 0142042211 scopus 로고
    • Studies on abnormal hemoglobins. II. Their identification by means of the method of fractional denaturation
    • Singer K., Chernoff A.I., and Singer L. Studies on abnormal hemoglobins. II. Their identification by means of the method of fractional denaturation. Blood 6 (1951) 429-435
    • (1951) Blood , vol.6 , pp. 429-435
    • Singer, K.1    Chernoff, A.I.2    Singer, L.3
  • 66
    • 70449297027 scopus 로고
    • Estimation of small percentages of foetal haemoglobin
    • Betke K., Marti H.R., and Schlicht I. Estimation of small percentages of foetal haemoglobin. Nature 184 suppl 24 (1959) 1877-1878
    • (1959) Nature , vol.184 , Issue.SUPPL. 24 , pp. 1877-1878
    • Betke, K.1    Marti, H.R.2    Schlicht, I.3
  • 67
    • 0015422248 scopus 로고
    • A simple method for the detection of unstable haemoglobins
    • Carrell R.W., and Kay R. A simple method for the detection of unstable haemoglobins. Br J Haematol 23 (1972) 615-619
    • (1972) Br J Haematol , vol.23 , pp. 615-619
    • Carrell, R.W.1    Kay, R.2
  • 68
    • 0344602845 scopus 로고
    • Hereditary Heinz-body anaemia. A report of studies on five patients with mild anaemia
    • Dacie J.V., Grimes A.J., Meisler A., et al. Hereditary Heinz-body anaemia. A report of studies on five patients with mild anaemia. Br J Haematol 10 (1964) 388-402
    • (1964) Br J Haematol , vol.10 , pp. 388-402
    • Dacie, J.V.1    Grimes, A.J.2    Meisler, A.3
  • 69
    • 0344352257 scopus 로고
    • Congenital Heinz-body anaemia. Further evidence on the cause of Heinz-body production in red cells
    • Grimes A.J., Meisler A., and Dacie J.V. Congenital Heinz-body anaemia. Further evidence on the cause of Heinz-body production in red cells. Br J Haematol 10 (1964) 281-290
    • (1964) Br J Haematol , vol.10 , pp. 281-290
    • Grimes, A.J.1    Meisler, A.2    Dacie, J.V.3
  • 70
    • 0002660528 scopus 로고
    • Decreased erythrocyte survival in hemoglobin H disease as a result of the abnormal properties of hemoglobin H: the benefit of splenectomy
    • Rigas D.A., and Koler R.D. Decreased erythrocyte survival in hemoglobin H disease as a result of the abnormal properties of hemoglobin H: the benefit of splenectomy. Blood 18 (1961) 1-17
    • (1961) Blood , vol.18 , pp. 1-17
    • Rigas, D.A.1    Koler, R.D.2
  • 71
    • 0016617475 scopus 로고
    • Identification of human hemoglobins by use of isoelectric focusing in gel
    • Koepke J.A., Thoma J.F., and Schmidt R.M. Identification of human hemoglobins by use of isoelectric focusing in gel. Clin Chem 21 (1975) 1953-1955
    • (1975) Clin Chem , vol.21 , pp. 1953-1955
    • Koepke, J.A.1    Thoma, J.F.2    Schmidt, R.M.3
  • 72
    • 0022514591 scopus 로고
    • A case of hemoglobin Indianapolis [beta 112(G14) Cys-Arg] in an individual from Cordoba, Spain
    • Baiget M., Gomez Pereira C., Jue D.L., et al. A case of hemoglobin Indianapolis [beta 112(G14) Cys-Arg] in an individual from Cordoba, Spain. Hemoglobin 10 (1986) 483-494
    • (1986) Hemoglobin , vol.10 , pp. 483-494
    • Baiget, M.1    Gomez Pereira, C.2    Jue, D.L.3
  • 73
    • 0026716475 scopus 로고
    • Erythrocytosis secondary to HB Bunbury [alpha 2 beta (2)94(FG1)Asp-Asn]
    • Ballas S.K., Park D., Fernandez L., et al. Erythrocytosis secondary to HB Bunbury [alpha 2 beta (2)94(FG1)Asp-Asn]. Hemoglobin 16 (1992) 281-286
    • (1992) Hemoglobin , vol.16 , pp. 281-286
    • Ballas, S.K.1    Park, D.2    Fernandez, L.3
  • 74
    • 0017088685 scopus 로고
    • Hemoglobin Providence. Functional consequences of two alterations of the 2,3-diphosphoglycerate binding site at position beta 82
    • Bonaventura J., Bonaventura C., Sullivan B., et al. Hemoglobin Providence. Functional consequences of two alterations of the 2,3-diphosphoglycerate binding site at position beta 82. J Biol Chem 251 (1976) 7563-7571
    • (1976) J Biol Chem , vol.251 , pp. 7563-7571
    • Bonaventura, J.1    Bonaventura, C.2    Sullivan, B.3
  • 75
    • 0028286465 scopus 로고
    • Chloride masks effects of opposing positive charges in Hb A and Hb Hinsdale (beta 139 Asn->Lys) that can modulate cooperativity as well as oxygen affinity
    • Bonaventura C., Arumugam M., Cashon R., et al. Chloride masks effects of opposing positive charges in Hb A and Hb Hinsdale (beta 139 Asn->Lys) that can modulate cooperativity as well as oxygen affinity. J Mol Biol 239 (1994) 561-568
    • (1994) J Mol Biol , vol.239 , pp. 561-568
    • Bonaventura, C.1    Arumugam, M.2    Cashon, R.3
  • 76
    • 0025134185 scopus 로고
    • Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser-Pro], a variant possessing a site maturation at a critical C-terminal residue
    • McDonald M.J., Michalski L.A., Turci S.M., et al. Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser-Pro], a variant possessing a site maturation at a critical C-terminal residue. Biochemistry 29 (1990) 173-178
    • (1990) Biochemistry , vol.29 , pp. 173-178
    • McDonald, M.J.1    Michalski, L.A.2    Turci, S.M.3
  • 77
    • 0017550230 scopus 로고
    • Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization
    • Moo-Penn W.F., Bechtel K.C., Schmidt R.M., et al. Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization. Biochemistry 16 (1977) 4872-4879
    • (1977) Biochemistry , vol.16 , pp. 4872-4879
    • Moo-Penn, W.F.1    Bechtel, K.C.2    Schmidt, R.M.3
  • 78
    • 0019400686 scopus 로고
    • Hemoglobin Connecticut (beta 21 (B3) Asp leads to Gly): a hemoglobin variant with low oxygen affinity
    • Moo-Penn W.F., McPhedran P., Bobrow S., et al. Hemoglobin Connecticut (beta 21 (B3) Asp leads to Gly): a hemoglobin variant with low oxygen affinity. Am J Hematol 11 (1981) 137-145
    • (1981) Am J Hematol , vol.11 , pp. 137-145
    • Moo-Penn, W.F.1    McPhedran, P.2    Bobrow, S.3
  • 79
    • 0021633813 scopus 로고
    • Structural and functional studies of hemoglobin Wayne: an elongated alpha-chain variant
    • Moo-Penn W.F., Jue D.L., Johnson M.H., et al. Structural and functional studies of hemoglobin Wayne: an elongated alpha-chain variant. J Mol Biol 180 (1984) 1119-1140
    • (1984) J Mol Biol , vol.180 , pp. 1119-1140
    • Moo-Penn, W.F.1    Jue, D.L.2    Johnson, M.H.3
  • 80
    • 0026675775 scopus 로고
    • Mutagenic dissection of hemoglobin cooperativity: effects of amino acid alteration on subunit assembly of oxy and deoxy tetramers
    • Turner G.J., Galacteros F., Doyle M.L., et al. Mutagenic dissection of hemoglobin cooperativity: effects of amino acid alteration on subunit assembly of oxy and deoxy tetramers. Proteins 14 (1992) 333-350
    • (1992) Proteins , vol.14 , pp. 333-350
    • Turner, G.J.1    Galacteros, F.2    Doyle, M.L.3
  • 81
    • 0013555432 scopus 로고
    • Department of Health and Human Services (Centers for Disease Control and Prevention), Atlanta
    • Winslow R.M. Laboratory Methods for Detecting Hemoglobinopathies (1984), Department of Health and Human Services (Centers for Disease Control and Prevention), Atlanta
    • (1984) Laboratory Methods for Detecting Hemoglobinopathies
    • Winslow, R.M.1
  • 82
    • 0017356383 scopus 로고
    • Preparation and use of a quality control hemolysate for microchromatographic determinations of hemoglobin A2
    • Schmidt R.M., Brosious E.M., and Wright J.M. Preparation and use of a quality control hemolysate for microchromatographic determinations of hemoglobin A2. Am J Clin Pathol 67 (1977) 215-218
    • (1977) Am J Clin Pathol , vol.67 , pp. 215-218
    • Schmidt, R.M.1    Brosious, E.M.2    Wright, J.M.3
  • 83
    • 0020323557 scopus 로고
    • The cooperative study of sickle cell disease: review of study design and objectives
    • Gaston M., and Rosse W.F. The cooperative study of sickle cell disease: review of study design and objectives. Am J Pediatr Hematol/Oncol 4 (1982) 197-201
    • (1982) Am J Pediatr Hematol/Oncol , vol.4 , pp. 197-201
    • Gaston, M.1    Rosse, W.F.2
  • 84
    • 0022628893 scopus 로고
    • Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial
    • Gaston M.H., Verter J.I., Woods G., et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med 314 (1986) 1593-1599
    • (1986) N Engl J Med , vol.314 , pp. 1593-1599
    • Gaston, M.H.1    Verter, J.I.2    Woods, G.3
  • 85
    • 0023644113 scopus 로고
    • Consensus conference. Newborn screening for sickle cell disease and other hemoglobinopathies
    • Consensus conference. Newborn screening for sickle cell disease and other hemoglobinopathies. JAMA 258 (1987) 1205-1209
    • (1987) JAMA , vol.258 , pp. 1205-1209
  • 86
    • 77649092862 scopus 로고    scopus 로고
    • The role of the federal government in supporting newborn screening programs
    • Baily M.A., and Murray T.H. (Eds), Johns Hopkins University Press, Baltimore, MD
    • Lloyd-Puryear M.A., Therrell B.L., Mann M.Y., et al. The role of the federal government in supporting newborn screening programs. In: Baily M.A., and Murray T.H. (Eds). Ethics in Newborn Screening: New Technologies, New Challenges (2009), Johns Hopkins University Press, Baltimore, MD 178-194
    • (2009) Ethics in Newborn Screening: New Technologies, New Challenges , pp. 178-194
    • Lloyd-Puryear, M.A.1    Therrell, B.L.2    Mann, M.Y.3
  • 87
    • 77649106211 scopus 로고
    • Status of NBS programs in the United States
    • Schmidt B.J., Diament A.J., and Loghin-Grosso N.S. (Eds), Elsevier Science, Amsterdam
    • Therrell B.L., Johnson A., and Williams D. Status of NBS programs in the United States. In: Schmidt B.J., Diament A.J., and Loghin-Grosso N.S. (Eds). Current Trends in Infant Screening (1988), Elsevier Science, Amsterdam 331-337
    • (1988) Current Trends in Infant Screening , pp. 331-337
    • Therrell, B.L.1    Johnson, A.2    Williams, D.3
  • 88
    • 0025770390 scopus 로고
    • Pain in sickle cell disease. Rates and risk factors
    • Platt O.S., Thorington B.D., Brambilla D.J., et al. Pain in sickle cell disease. Rates and risk factors. N Engl J Med 325 (1991) 11-16
    • (1991) N Engl J Med , vol.325 , pp. 11-16
    • Platt, O.S.1    Thorington, B.D.2    Brambilla, D.J.3
  • 89
    • 0032989606 scopus 로고    scopus 로고
    • Silent cerebral infarcts in sickle cell anemia: a risk factor analysis. The cooperative study of sickle cell disease
    • Kinney T.R., Sleeper L.A., Wang W.C., et al. Silent cerebral infarcts in sickle cell anemia: a risk factor analysis. The cooperative study of sickle cell disease. Pediatrics 103 (1999) 640-645
    • (1999) Pediatrics , vol.103 , pp. 640-645
    • Kinney, T.R.1    Sleeper, L.A.2    Wang, W.C.3
  • 90
    • 33646850197 scopus 로고    scopus 로고
    • Sickle cell disease: a question of equity and quality
    • Smith L.A., Oyeku S.O., Homer C., et al. Sickle cell disease: a question of equity and quality. Pediatrics 117 (2006) 1763-1770
    • (2006) Pediatrics , vol.117 , pp. 1763-1770
    • Smith, L.A.1    Oyeku, S.O.2    Homer, C.3
  • 91
    • 0017062334 scopus 로고
    • Prenatal diagnosis of sickle-cell anemia
    • Kan Y.W., Golbus M.S., and Trecartin R. Prenatal diagnosis of sickle-cell anemia. N Engl J Med 294 (1976) 1039-1040
    • (1976) N Engl J Med , vol.294 , pp. 1039-1040
    • Kan, Y.W.1    Golbus, M.S.2    Trecartin, R.3
  • 92
    • 0018171815 scopus 로고
    • Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic-fluid cells
    • Kan Y.W., and Dozy A.M. Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic-fluid cells. Lancet 2 (1978) 910-912
    • (1978) Lancet , vol.2 , pp. 910-912
    • Kan, Y.W.1    Dozy, A.M.2
  • 93
    • 0007758208 scopus 로고
    • Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation
    • Kan Y.W., and Dozy A.M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A 75 (1978) 5631-5635
    • (1978) Proc Natl Acad Sci U S A , vol.75 , pp. 5631-5635
    • Kan, Y.W.1    Dozy, A.M.2
  • 94
    • 0019478744 scopus 로고
    • Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation
    • Chang J.C., and Kan Y.W. Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation. Lancet 2 (1981) 1127-1129
    • (1981) Lancet , vol.2 , pp. 1127-1129
    • Chang, J.C.1    Kan, Y.W.2
  • 95
    • 0022372670 scopus 로고
    • Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
    • Saiki R.K., Scharf S., Faloona F., et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230 (1985) 1350-1354
    • (1985) Science , vol.230 , pp. 1350-1354
    • Saiki, R.K.1    Scharf, S.2    Faloona, F.3
  • 96
    • 0022965004 scopus 로고
    • Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction
    • Mullis K., Faloona F., Scharf S., et al. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harb Symp Quant Biol 51 (1986) 263-273
    • (1986) Cold Spring Harb Symp Quant Biol , vol.51 , pp. 263-273
    • Mullis, K.1    Faloona, F.2    Scharf, S.3
  • 97
    • 0023601968 scopus 로고
    • Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
    • Wong C., Dowling C.E., Saiki R.K., et al. Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 330 (1987) 384-386
    • (1987) Nature , vol.330 , pp. 384-386
    • Wong, C.1    Dowling, C.E.2    Saiki, R.K.3
  • 98
    • 0023130168 scopus 로고
    • DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening
    • McCabe E.R., Huang S.Z., Seltzer W.K., et al. DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet 75 (1987) 213-216
    • (1987) Hum Genet , vol.75 , pp. 213-216
    • McCabe, E.R.1    Huang, S.Z.2    Seltzer, W.K.3
  • 99
    • 0023850178 scopus 로고
    • Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
    • Saiki R.K., Gelfand D.H., Stoffel S., et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239 (1988) 487-491
    • (1988) Science , vol.239 , pp. 487-491
    • Saiki, R.K.1    Gelfand, D.H.2    Stoffel, S.3
  • 100
    • 0023753018 scopus 로고
    • Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes
    • Saiki R.K., Chang C.A., Levenson C.H., et al. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 319 (1988) 537-541
    • (1988) N Engl J Med , vol.319 , pp. 537-541
    • Saiki, R.K.1    Chang, C.A.2    Levenson, C.H.3
  • 101
    • 0024518738 scopus 로고
    • Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening
    • Jinks D.C., Minter M., Tarver D.A., et al. Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet 81 (1989) 363-366
    • (1989) Hum Genet , vol.81 , pp. 363-366
    • Jinks, D.C.1    Minter, M.2    Tarver, D.A.3
  • 102
    • 0024436799 scopus 로고
    • Rapid detection of beta s DNA from Guthrie cards by chromogenic probes
    • McCabe E.R., Zhang Y.H., Descartes M., et al. Rapid detection of beta s DNA from Guthrie cards by chromogenic probes. Lancet 2 (1989) 741
    • (1989) Lancet , vol.2 , pp. 741
    • McCabe, E.R.1    Zhang, Y.H.2    Descartes, M.3
  • 103
    • 0026533582 scopus 로고
    • Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program
    • Descartes M., Huang Y., Zhang Y.H., et al. Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res 31 (1992) 217-221
    • (1992) Pediatr Res , vol.31 , pp. 217-221
    • Descartes, M.1    Huang, Y.2    Zhang, Y.H.3
  • 104
    • 0026710551 scopus 로고
    • Analysis from newborn screening dried blood specimens
    • Zhang Y.H., and McCabe E.R. Analysis from newborn screening dried blood specimens. Hum Genet 89 (1992) 311-314
    • (1992) Hum Genet , vol.89 , pp. 311-314
    • Zhang, Y.H.1    McCabe, E.R.2
  • 105
    • 0027370310 scopus 로고
    • Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns
    • Sylvester-Jackson D.A., Page S.L., White J.M., et al. Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns. Arch Pathol Lab Med 117 (1993) 1110-1114
    • (1993) Arch Pathol Lab Med , vol.117 , pp. 1110-1114
    • Sylvester-Jackson, D.A.1    Page, S.L.2    White, J.M.3
  • 106
    • 0028234409 scopus 로고
    • Application of molecular genetics in public health: improved follow-up in a neonatal hemoglobinopathy screening program
    • Zhang Y.H., McCabe L.L., Wilborn M., et al. Application of molecular genetics in public health: improved follow-up in a neonatal hemoglobinopathy screening program. Biochem Med Metab Biol 52 (1994) 27-35
    • (1994) Biochem Med Metab Biol , vol.52 , pp. 27-35
    • Zhang, Y.H.1    McCabe, L.L.2    Wilborn, M.3
  • 107
    • 0142058062 scopus 로고    scopus 로고
    • Neonatal hemoglobinopathy screening: molecular genetic technologies
    • Bhardwaj U., Zhang Y.H., and McCabe E.R. Neonatal hemoglobinopathy screening: molecular genetic technologies. Mol Genet Metab 80 (2003) 129-137
    • (2003) Mol Genet Metab , vol.80 , pp. 129-137
    • Bhardwaj, U.1    Zhang, Y.H.2    McCabe, E.R.3
  • 108
    • 0029888998 scopus 로고    scopus 로고
    • Advances in molecular diagnosis of inherited hemoglobin disorders
    • Sutcharitchan P., and Embury S.H. Advances in molecular diagnosis of inherited hemoglobin disorders. Curr Opin Hematol 3 (1996) 131-138
    • (1996) Curr Opin Hematol , vol.3 , pp. 131-138
    • Sutcharitchan, P.1    Embury, S.H.2
  • 109
    • 28544446736 scopus 로고    scopus 로고
    • Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection
    • Dunbar S. Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection. Clin Chim Acta 363 (2006) 71-82
    • (2006) Clin Chim Acta , vol.363 , pp. 71-82
    • Dunbar, S.1
  • 110
    • 33745972087 scopus 로고    scopus 로고
    • Technical validation of a TM biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel
    • Strom C., Janeszco R., Quan F., et al. Technical validation of a TM biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel. J Mol Diagn 8 (2006) 371-375
    • (2006) J Mol Diagn , vol.8 , pp. 371-375
    • Strom, C.1    Janeszco, R.2    Quan, F.3
  • 111
    • 34447279033 scopus 로고    scopus 로고
    • Application of flow cytometry-based genotyping for rapid detection of hemoglobin variants
    • Aslanian S., Azimi M., Noble J., et al. Application of flow cytometry-based genotyping for rapid detection of hemoglobin variants. Int J Lab Hematol 29 (2007) 284-291
    • (2007) Int J Lab Hematol , vol.29 , pp. 284-291
    • Aslanian, S.1    Azimi, M.2    Noble, J.3
  • 112
    • 34547951720 scopus 로고    scopus 로고
    • Sickle cell trait and the risk of venous thromboembolism among blacks
    • Austin H., Key N.S., Benson J.M., et al. Sickle cell trait and the risk of venous thromboembolism among blacks. Blood 110 (2007) 908-912
    • (2007) Blood , vol.110 , pp. 908-912
    • Austin, H.1    Key, N.S.2    Benson, J.M.3
  • 113
    • 0037406282 scopus 로고    scopus 로고
    • Rapid screening of multiple {beta}-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes
    • Vrettou C., Traeger-Synodinos J., Tzetis M., et al. Rapid screening of multiple {beta}-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem 49 (2003) 769-776
    • (2003) Clin Chem , vol.49 , pp. 769-776
    • Vrettou, C.1    Traeger-Synodinos, J.2    Tzetis, M.3
  • 115
    • 62649123871 scopus 로고    scopus 로고
    • Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients
    • Creary L.E., Ulug P., Menzel S., et al. Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS One 4 (2009) e4218
    • (2009) PLoS One , vol.4
    • Creary, L.E.1    Ulug, P.2    Menzel, S.3
  • 116
    • 67749114458 scopus 로고    scopus 로고
    • Genetic architecture of hemoglobin F control
    • Menzel S., and Thein S.L. Genetic architecture of hemoglobin F control. Curr Opin Hematol 16 (2009) 179-186
    • (2009) Curr Opin Hematol , vol.16 , pp. 179-186
    • Menzel, S.1    Thein, S.L.2
  • 117
    • 20044367676 scopus 로고    scopus 로고
    • Predicting clinical severity in sickle cell anaemia
    • Steinberg M.H. Predicting clinical severity in sickle cell anaemia. Br J Haematol 129 (2005) 465-481
    • (2005) Br J Haematol , vol.129 , pp. 465-481
    • Steinberg, M.H.1
  • 118
    • 65549111723 scopus 로고    scopus 로고
    • Genetic etiologies for phenotypic diversity in sickle cell anemia
    • Steinberg M. Genetic etiologies for phenotypic diversity in sickle cell anemia. ScientificWorldJournal 9 (2009) 46-67
    • (2009) ScientificWorldJournal , vol.9 , pp. 46-67
    • Steinberg, M.1
  • 119
    • 67749114692 scopus 로고    scopus 로고
    • Genome-wide association studies and the genetic dissection of complex traits
    • Sebastiani P., Timofeev N., Dworkis D., et al. Genome-wide association studies and the genetic dissection of complex traits. Am J Hematol 84 (2009) 504-515
    • (2009) Am J Hematol , vol.84 , pp. 504-515
    • Sebastiani, P.1    Timofeev, N.2    Dworkis, D.3
  • 120
    • 77649158402 scopus 로고    scopus 로고
    • From developing guidelines to implementing legislation: Actions of the U.S. Advisory Committee on Heritable Disorders in newborns and children towards advancing and improving newborn screening
    • in press
    • Howell RR, Lloyd-Puryear M: From developing guidelines to implementing legislation: actions of the U.S. Advisory Committee on Heritable Disorders in newborns and children towards advancing and improving newborn screening. Semin Perinatol (in press)
    • Semin Perinatol
    • Howell, R.R.1    Lloyd-Puryear, M.2
  • 121
    • 0028812672 scopus 로고
    • Discontinuing penicillin prophylaxis in children with sickle cell anemia. Prophylactic penicillin study II
    • Falletta J.M., Woods G.M., Verter J.I., et al. Discontinuing penicillin prophylaxis in children with sickle cell anemia. Prophylactic penicillin study II. J Pediatr 127 (1995) 685-690
    • (1995) J Pediatr , vol.127 , pp. 685-690
    • Falletta, J.M.1    Woods, G.M.2    Verter, J.I.3
  • 122
    • 70350688113 scopus 로고    scopus 로고
    • Advances in the prevention and treatment are changing thalassemia from a fatal to a chronic disease. Experience from a Cyprus model and its use as a paradigm for future applications
    • Kolnagou A., and Kontoghiorghes G. Advances in the prevention and treatment are changing thalassemia from a fatal to a chronic disease. Experience from a Cyprus model and its use as a paradigm for future applications. Hemoglobin 33 (2009) 287-295
    • (2009) Hemoglobin , vol.33 , pp. 287-295
    • Kolnagou, A.1    Kontoghiorghes, G.2
  • 123
    • 73449102241 scopus 로고    scopus 로고
    • Understanding iron overload: Screening, monitoring, and caring for patients with transfusion-dependent anemias
    • Ault P., and Jones K. Understanding iron overload: Screening, monitoring, and caring for patients with transfusion-dependent anemias. Clin J Oncol Nurs 13 (2009) 511-517
    • (2009) Clin J Oncol Nurs , vol.13 , pp. 511-517
    • Ault, P.1    Jones, K.2
  • 124
    • 67349250371 scopus 로고    scopus 로고
    • Hormonal contraception, sickle cell trait, and risk for venous thromboembolism among African American women
    • Austin H., Lally C., Benson J.M., et al. Hormonal contraception, sickle cell trait, and risk for venous thromboembolism among African American women. Am J Obstet Gynecol 200 (2009) e1-e3
    • (2009) Am J Obstet Gynecol , vol.200
    • Austin, H.1    Lally, C.2    Benson, J.M.3
  • 125
    • 0033625663 scopus 로고    scopus 로고
    • Evaluation of HbA1c determination methods in patients with hemoglobinopathies
    • Schnedl W.J., Krause R., Halwachs-Baumann G., et al. Evaluation of HbA1c determination methods in patients with hemoglobinopathies. Diabetes Care 23 (2000) 339-344
    • (2000) Diabetes Care , vol.23 , pp. 339-344
    • Schnedl, W.J.1    Krause, R.2    Halwachs-Baumann, G.3
  • 126
    • 34548080095 scopus 로고    scopus 로고
    • Problem of using hemoglobin A1C measurement in endemic area of hemoglobinopathy
    • Wiwanitkit V. Problem of using hemoglobin A1C measurement in endemic area of hemoglobinopathy. Prim Care Diabetes 1 (2007) 173-175
    • (2007) Prim Care Diabetes , vol.1 , pp. 173-175
    • Wiwanitkit, V.1
  • 127
    • 0033074002 scopus 로고    scopus 로고
    • HbA1c determination in patients with hemoglobinopathies
    • Schnedl W.J., Trinker M., and Lipp R.W. HbA1c determination in patients with hemoglobinopathies. Diabetes Care 22 (1999) 368-369
    • (1999) Diabetes Care , vol.22 , pp. 368-369
    • Schnedl, W.J.1    Trinker, M.2    Lipp, R.W.3
  • 128
    • 33645727027 scopus 로고    scopus 로고
    • High prevalence and correlates of low bone mineral density in young adults with sickle cell disease
    • Miller R., Segal J., Ashar B., et al. High prevalence and correlates of low bone mineral density in young adults with sickle cell disease. Am J Hematol 81 (2006) 236-241
    • (2006) Am J Hematol , vol.81 , pp. 236-241
    • Miller, R.1    Segal, J.2    Ashar, B.3
  • 129
    • 0023238370 scopus 로고
    • Sickle-cell trait as a risk factor for sudden death in physical training
    • Kark J.A., Posey D.M., Schumacher H.R., et al. Sickle-cell trait as a risk factor for sudden death in physical training. N Engl J Med 317 (1987) 781-787
    • (1987) N Engl J Med , vol.317 , pp. 781-787
    • Kark, J.A.1    Posey, D.M.2    Schumacher, H.R.3
  • 130
    • 66449103072 scopus 로고    scopus 로고
    • Complications associated with sickle cell trait: a brief narrative review
    • Tsaras G., Owusu-Ansah A., Boateng F., et al. Complications associated with sickle cell trait: a brief narrative review. Am J Med 122 (2009) 507-512
    • (2009) Am J Med , vol.122 , pp. 507-512
    • Tsaras, G.1    Owusu-Ansah, A.2    Boateng, F.3
  • 131
    • 0034889014 scopus 로고    scopus 로고
    • Inherited haemoglobin disorders: an increasing global health problem
    • Weatherall D.J., and Clegg J.B. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 79 (2001) 704-712
    • (2001) Bull World Health Organ , vol.79 , pp. 704-712
    • Weatherall, D.J.1    Clegg, J.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.