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Volumn 14, Issue , 2013, Pages 1-24

The role of the inherited disorders of hemoglobin, the first "molecular diseases," in the future of human genetics

Author keywords

Global health burden; Hemoglobinopathy; Phenotypic diversity; Sickle cell anemia; Thalassemia

Indexed keywords

HEMOGLOBIN; HEMOGLOBIN F;

EID: 84884297091     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-091212-153500     Document Type: Review
Times cited : (35)

References (120)
  • 1
    • 84867821480 scopus 로고    scopus 로고
    • Methemoglobinemia and ascorbate deficiency in hemoglobin E βthalassemia: Metabolic and clinical implications
    • Allen A, Fisher C, Premawardena A, Bandara D, Perera A, et al. 2012. Methemoglobinemia and ascorbate deficiency in hemoglobin E βthalassemia: Metabolic and clinical implications. Blood 120:2939-44
    • (2012) Blood , vol.120 , pp. 2939-2944
    • Allen, A.1    Fisher, C.2    Premawardena, A.3    Bandara, D.4    Perera, A.5
  • 2
    • 78650072153 scopus 로고    scopus 로고
    • Adaptation to anemia in hemoglobin E-βthalassemia
    • Allen A, Fisher C, Premawardena A, Peto T, Allen S, et al. 2010. Adaptation to anemia in hemoglobin E-βthalassemia. Blood 116:5368-70
    • (2010) Blood , vol.116 , pp. 5368-5370
    • Allen, A.1    Fisher, C.2    Premawardena, A.3    Peto, T.4    Allen, S.5
  • 4
    • 77049164783 scopus 로고
    • Protection afforded by sickle-cell trait against subtertian malarial infection
    • Allison AC. 1954. Protection afforded by sickle-cell trait against subtertian malarial infection. Br. Med. J. 1954(4587):290-94
    • (1954) Br. Med. J. , vol.1954 , Issue.4587 , pp. 290-294
    • Allison, A.C.1
  • 5
    • 0025562017 scopus 로고
    • Antenatal diagnosis: Summary of results
    • Alter BP. 1990. Antenatal diagnosis: Summary of results. Ann. N. Y. Acad. Sci. 612:237-50
    • (1990) Ann. N. Y. Acad. Sci , vol.612 , pp. 237-250
    • Alter, B.P.1
  • 7
    • 3442884245 scopus 로고
    • Primi risultati di ricerche ematologiche nei familiari di ammalati di anemia di cooley
    • Angelini V. 1937. Primi risultati di ricerche ematologiche nei familiari di ammalati di anemia di Cooley. Minerva Med. 28:331-32
    • (1937) Minerva Med , vol.28 , pp. 331-332
    • Angelini, V.1
  • 9
    • 0000328467 scopus 로고
    • The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion
    • Baglioni C. 1962. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc. Natl. Acad. Sci. USA 48:1880-86
    • (1962) Proc. Natl. Acad. Sci. USA , vol.48 , pp. 1880-1886
    • Baglioni, C.1
  • 10
    • 1542278986 scopus 로고
    • Excess a chain synthesis relative to β chain synthesis in thalassaemia major and minor
    • Bank A, Marks PA. 1966. Excess a chain synthesis relative to β chain synthesis in thalassaemia major and minor. Nature 212:1198-200
    • (1966) Nature , vol.212 , pp. 1198-1200
    • Bank, A.1    Marks, P.A.2
  • 12
    • 84867818765 scopus 로고    scopus 로고
    • Reawakening fetal hemoglobin: Prospects for new therapies for the β-globin disorders
    • Bauer DE, Kamran SC, Orkin SH. 2012. Reawakening fetal hemoglobin: Prospects for new therapies for the β-globin disorders. Blood 120:2945-53
    • (2012) Blood , vol.120 , pp. 2945-2953
    • Bauer, D.E.1    Kamran, S.C.2    Orkin, S.H.3
  • 13
    • 0015167427 scopus 로고
    • Defect in messenger RNA for human hemoglobin synthesis in beta thalassemia
    • Benz EJ, Forget BG. 1971. Defect in messenger RNA for human hemoglobin synthesis in beta thalassemia. J. Clin. Investig. 50:2755-60
    • (1971) J. Clin. Investig , vol.50 , pp. 2755-2760
    • Benz, E.J.1    Forget, B.G.2
  • 15
    • 37049058631 scopus 로고
    • Ribosomes active in protein synthesis in human reticulocytes: A defect in thalassaemia major
    • Burka ER, Marks PA. 1963. Ribosomes active in protein synthesis in human reticulocytes: A defect in thalassaemia major. Nature 199:706-7
    • (1963) Nature , vol.199 , pp. 706-707
    • Burka, E.R.1    Marks, P.A.2
  • 16
    • 0041575677 scopus 로고
    • Recherches sur l'anémia érythroblastique infantile des peuples De La Mediterranée orientale.Etude anthropologiqu e, étiologique et pathogénique.La transmission hereditaire De Lamaladia
    • Caminopetros J. 1938. Recherches sur l'anémia é rythroblastique infantile des peuples De La Mediterranée orientale.Etude anthropologiqu e, étiologique et pathogénique.La transmission hereditaire De Lamaladia. Ann. Méd. 43:104-25
    • (1938) Ann. Méd. , vol.43 , pp. 104-125
    • Caminopetros, J.1
  • 18
    • 0018764020 scopus 로고
    • Β 0 thalassemi a, a nonsense mutation in man
    • Chang JC, Kan YW. 1979. β0 thalassemi a, a nonsense mutation in man. Proc. Natl. Acad. Sci. USA 76:2886-89
    • (1979) Proc. Natl. Acad. Sci. USA , vol.76 , pp. 2886-2889
    • Chang, J.C.1    Kan, Y.W.2
  • 19
    • 0029025475 scopus 로고
    • Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia
    • Charache S, Terrin ML, Moore RD, Dover GJ, Barton FB, et al. 1995. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N. Engl. J. Med. 332:1317-22
    • (1995) N. Engl. J. Med , vol.332 , pp. 1317-1322
    • Charache, S.1    Terrin, M.L.2    Moore, R.D.3    Dover, G.J.4    Barton, F.B.5
  • 20
    • 0042577860 scopus 로고
    • Mediterranean hemopathic syndromes
    • Chini V, Valeri CM. 1949. Mediterranean hemopathic syndromes. Blood 4:989-1013
    • (1949) Blood , vol.4 , pp. 989-1013
    • Chini, V.1    Valeri, C.M.2
  • 21
    • 0014208513 scopus 로고
    • Haemoglobin synthesis in a-Thalassaemia (haemoglobin H disease
    • Clegg JB, Weatherall DJ. 1967. Haemoglobin synthesis in a-Thalassaemia (haemoglobin H disease). Nature 215:1241-43
    • (1967) Nature , vol.215 , pp. 1241-1243
    • Clegg, J.B.1    Weatherall, D.J.2
  • 22
    • 0015218943 scopus 로고
    • Haemoglobin constant spring-A chain terminationmutant?
    • Clegg JB, Weatherall DJ, Milner PF. 1971. HaemoglobinConstant Spring-A chain terminationmutant? Nature 234:337-40
    • (1971) Nature , vol.234 , pp. 337-340
    • Clegg, J.B.1    Weatherall, D.J.2    Milner, P.F.3
  • 24
    • 77952634429 scopus 로고    scopus 로고
    • Epidemiology of β-Thalassaemia in western india: Mapping the frequencies and mutations in sub-regions of maharashtra and gujarat
    • Colah R, Gorakshakar A, Phanasgaonkar S, D'souza E, Nadkarni A, et al. 2010. Epidemiology of β-Thalassaemia in Western India: Mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat. Br. J. Haematol. 149:739-47
    • (2010) Br. J. Haematol , vol.149 , pp. 739-747
    • Colah, R.1    Gorakshakar, A.2    Phanasgaonkar, S.3    D'souza, E.4    Nadkarni, A.5
  • 25
    • 0002341637 scopus 로고
    • A series of cases of splenomegaly in children with anemia and peculiar bone changes
    • Cooley TB, Lee P. 1925. A series of cases of splenomegaly in children with anemia and peculiar bone changes. Trans. Am. Pediatr. Soc. 37:29
    • (1925) Trans. Am. Pediatr. Soc , vol.37 , pp. 29
    • Cooley, T.B.1    Lee, P.2
  • 26
    • 0034603546 scopus 로고    scopus 로고
    • Thalassaemia in Sri Lanka: Implications for the future health burden of Asian populations
    • De Silva S, Fisher CA, Premawardhena A, Lamabadusuriya SP, Peto TE, et al. 2000. Thalassaemia in Sri Lanka: Implications for the future health burden of Asian populations. Lancet 355:786-91
    • (2000) Lancet , vol.355 , pp. 786-791
    • De Silva, S.1    Fisher, C.A.2    Premawardhena, A.3    Lamabadusuriya, S.P.4    Peto, T.E.5
  • 27
    • 0000116131 scopus 로고
    • Assembly of the peptide chains of hemoglobin
    • Dintzis HM. 1961. Assembly of the peptide chains of hemoglobin. Proc. Natl. Acad. Sci. USA 47:247-50
    • (1961) Proc. Natl. Acad. Sci. USA , vol.47 , pp. 247-250
    • Dintzis, H.M.1
  • 28
    • 0037438335 scopus 로고    scopus 로고
    • Linus Pauling and sickle cell disease
    • EatonWA. 2003. Linus Pauling and sickle cell disease. Biophys. Chem. 100:109-16
    • (2003) Biophys. Chem , vol.100 , pp. 109-116
    • Eaton, W.A.1
  • 29
    • 0018763408 scopus 로고
    • Organization of the a-globin genes in the Chinese a-Thalassemia syndromes
    • Embury SH, Lebo RV, Dozy AM, Kan YW. 1979. Organization of the a-globin genes in the Chinese a-Thalassemia syndromes. J. Clin. Investig. 63:1307-10
    • (1979) J. Clin. Investig , vol.63 , pp. 1307-1310
    • Embury, S.H.1    Lebo, R.V.2    Dozy, A.M.3    Kan, Y.W.4
  • 30
    • 0019219843 scopus 로고
    • Two different molecular organizations account for the single a-globin gene of the a-Thalassemia-2 genotype
    • Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D. 1980. Two different molecular organizations account for the single a-globin gene of the a-Thalassemia-2 genotype. J. Clin. Investig. 66:1319-25
    • (1980) J. Clin. Investig , vol.66 , pp. 1319-1325
    • Embury, S.H.1    Miller, J.A.2    Dozy, A.M.3    Kan, Y.W.4    Chan, V.5    Todd, D.6
  • 34
    • 78649469071 scopus 로고    scopus 로고
    • Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
    • Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. 2010. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat. Genet. 42:1049-51
    • (2010) Nat. Genet , vol.42 , pp. 1049-1051
    • Galarneau, G.1    Palmer, C.D.2    Sankaran, V.G.3    Orkin, S.H.4    Hirschhorn, J.N.5    Lettre, G.6
  • 36
    • 58349119505 scopus 로고
    • The diagnosis of thalassemia trait by starch block electrophoresis of the hemoglobin
    • Gerald PS, Diamond LK. 1958. The diagnosis of thalassemia trait by starch block electrophoresis of the hemoglobin. Blood 13:61-69
    • (1958) Blood , vol.13 , pp. 61-69
    • Gerald, P.S.1    Diamond, L.K.2
  • 37
    • 84872006761 scopus 로고    scopus 로고
    • Thalassemi a, mental retardatio n, andmyelodysplastic syndrome
    • Gibbons RJ. 2012.a-Thalassemi a, mental retardatio n, andmyelodysplastic syndrome. Cold Spring Harb. Perspect. Med. 2:A011759
    • (2012) Cold Spring Harb. Perspect. Med , vol.2
    • Gibbons, R.J.1
  • 38
    • 77950255546 scopus 로고    scopus 로고
    • Genetic variation in human HBB is associated with Plasmodium falciparum transmission
    • Gouagna LC, Bancone G, Yao F, Yameogo B, Dabire KR, et al. 2010. Genetic variation in human HBB is associated with Plasmodium falciparum transmission. Nat. Genet. 42:328-31
    • (2010) Nat. Genet , vol.42 , pp. 328-331
    • Gouagna, L.C.1    Bancone, G.2    Yao, F.3    Yameogo, B.4    Dabire, K.R.5
  • 39
    • 84981839006 scopus 로고
    • The rate of mutation of human genes
    • Suppl
    • Haldane JBS. 1949. The rate of mutation of human genes. Hereditas 35(Suppl.):267-73
    • (1949) Hereditas , vol.35 , pp. 267-273
    • Haldane, J.B.S.1
  • 42
    • 84928862267 scopus 로고
    • Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia
    • Herrick JB. 1910. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch. Intern. Med. 6:517-21
    • (1910) Arch. Intern. Med , vol.6 , pp. 517-521
    • Herrick, J.B.1
  • 43
    • 3442889968 scopus 로고
    • Amino acids: Incorporation into a-And β-chains of hemoglobin by normal and thalassemic reticulocytes
    • Heywood JD, Karon M, Weissman S. 1964. Amino acids: Incorporation into a-And β-chains of hemoglobin by normal and thalassemic reticulocytes. Science 146:530-31
    • (1964) Science , vol.146 , pp. 530-531
    • Heywood, J.D.1    Karon, M.2    Weissman, S.3
  • 45
    • 0015496468 scopus 로고
    • Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest
    • Hollan SR, Szelenyi JG, Brimhall G, Duerst M, Jones RT, et al. 1972. Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest. Nature 235:47-50
    • (1972) Nature , vol.235 , pp. 47-50
    • Hollan, S.R.1    Szelenyi, J.G.2    Brimhall, G.3    Duerst, M.4    Jones, R.T.5
  • 47
    • 0015877458 scopus 로고
    • Quantitative deficiency of chain specificmessenger ribonucleic acids in the thalassemia syndromes
    • Housman D, Forget BG, Skoultchi A, Benz EJ. 1973. Quantitative deficiency of chain specificmessenger ribonucleic acids in the thalassemia syndromes. Proc. Natl. Acad. Sci. USA 70:1809-13
    • (1973) Proc. Natl. Acad. Sci. USA , vol.70 , pp. 1809-1813
    • HousmanD Forget, B.G.1    Skoultchi, A.2    Benz, E.J.3
  • 48
    • 33646803415 scopus 로고
    • Abnormal human haemoglobins: Haemoglobin Bart's a foetal haemoglobin without achains
    • Hunt JA, Lehmann H. 1959. Abnormal human haemoglobins: Haemoglobin Bart's: A foetal haemoglobin without achains. Nature 184:872-73
    • (1959) Nature , vol.184 , pp. 872-873
    • Hunt, J.A.1    Lehmann, H.2
  • 49
    • 0000420850 scopus 로고
    • Specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin
    • Ingram VM. 1956. Specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature 178:792-94
    • (1956) Nature , vol.178 , pp. 792-794
    • Ingram, V.M.1
  • 50
    • 0042577857 scopus 로고
    • Genetic basis of the thalassemia diseases
    • Ingram VM, Stretton AOW. 1959. Genetic basis of the thalassemia diseases. Nature 184:1903-9
    • (1959) Nature , vol.184 , pp. 1903-1909
    • Ingram, V.M.1    Stretton, A.O.W.2
  • 51
    • 33947478413 scopus 로고
    • Chemical characterization and subunit hybridization of human hemoglobin H and associated compounds
    • Jones RT, Schroeder WA. 1963. Chemical characterization and subunit hybridization of human hemoglobin H and associated compounds. Biochemistry 2:1357-67
    • (1963) Biochemistry , vol.2 , pp. 1357-1367
    • Jones, R.T.1    Schroeder, W.A.2
  • 52
    • 0007758208 scopus 로고
    • Polymorphisms of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation
    • Kan YW, Dozy AM. 1978. Polymorphisms of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation. Proc. Natl. Acad. Sci. USA 75:5631-35
    • (1978) Proc. Natl. Acad. Sci. USA , vol.75 , pp. 5631-5635
    • Kan, Y.W.1    Dozy, A.M.2
  • 53
    • 0001654842 scopus 로고
    • Observations on the minor basic hemoglobin component in blood of normal individuals and patients with thalassemia
    • Kunkel HG, Ceppellini R, Müller-Eberhard U, Wolf J. 1957. Observations on the minor basic hemoglobin component in blood of normal individuals and patients with thalassemia. J. Clin. Investig. 36:1615-25
    • (1957) J. Clin. Investig , vol.36 , pp. 1615-1625
    • Kunkel, H.G.1    Ceppellini, R.2    Müller-Eberhard, U.3    Wolf, J.4
  • 54
    • 0006176296 scopus 로고
    • L'anémieà hématies falciformes chez l'enfant indigène du bas-congo
    • Lambotte-Legrand J, Lambotte-Legrand C. 1951. L'anémieà hématies falciformes chez l'enfant indigène du Bas-Congo. Ann. Soc. Belge Méd. Trop. 31:207-34
    • (1951) Ann. Soc. Belge Méd. Trop , vol.31 , pp. 207-234
    • Lambotte-Legrand, J.1    Lambotte-Legrand, C.2
  • 55
    • 84877135776 scopus 로고    scopus 로고
    • The search for genetic modifiers of disease severity in the β-hemoglobinopathies
    • Lettre G. 2012. The search for genetic modifiers of disease severity in the β-hemoglobinopathies. Cold Spring Harb. Perspect. Med. 2:A015032
    • (2012) Cold Spring Harb. Perspect. Med , vol.2
    • Lettre, G.1
  • 59
    • 0000192487 scopus 로고
    • Inheritance of sickle-cell anemia
    • Neel JV. 1949. Inheritance of sickle-cell anemia. Science 110:64-66
    • (1949) Science , vol.110 , pp. 64-66
    • Neel, J.V.1
  • 60
    • 70349566593 scopus 로고
    • Diabetes mellitus: A thrifty genotype rendered detrimental by progress
    • Neel JV. 1962. Diabetes mellitus: A thrifty genotype rendered detrimental by progress? Am. J. Hum. Genet. 14:353-62
    • (1962) Am. J. Hum. Genet , vol.14 , pp. 353-362
    • Neel, J.V.1
  • 61
    • 0015160544 scopus 로고
    • Isolation and translation of hemoglobin messenger RNA from thalassemi a, sickle cell anemi a, and normal human reticulocytes
    • Nienhuis AW, Anderson WF. 1971. Isolation and translation of hemoglobin messenger RNA from thalassemi a, sickle cell anemi a, and normal human reticulocytes. J. Clin. Investig. 50:2458-62
    • (1971) J. Clin. Investig , vol.50 , pp. 2458-2462
    • Nienhuis, A.W.1    Anderson, W.F.2
  • 62
    • 84877309853 scopus 로고    scopus 로고
    • Pathophysiology and clinical manifestations of the β-Thalassemias
    • Nienhuis AW, Nathan DG. 2012. Pathophysiology and clinical manifestations of the β-Thalassemias. Cold Spring Harb. Perspect. Med. 2:A011726
    • (2012) Cold Spring Harb. Perspect. Med , vol.2
    • Nienhuis, A.W.1    Nathan, D.G.2
  • 66
    • 0015226836 scopus 로고
    • Haemoglobinmiyad a, aβ-dfusion peptide (anti-lepore) type discovered in a japanese family
    • Ohta Y, Yamaoka K, Sumida I, YanaseT. 1971. HaemoglobinMiyad a, aβ-Dfusion peptide (anti-Lepore) type discovered in a Japanese family. Nat. New Biol. 234:218-20
    • (1971) Nat. New Biol , vol.234 , pp. 218-220
    • Ohta, Y.1    Yamaoka, K.2    Sumida, I.3    Yanase, T.4
  • 67
    • 0022502893 scopus 로고
    • First-Trimester fetal diagnosis for haemoglobinopathy: Report on 200 cases
    • Old JM, Fitches A, Heath C, Thein SL, Weatherall DJ, et al. 1986. First-Trimester fetal diagnosis for haemoglobinopathy: Report on 200 cases. Lancet 328:763-67
    • (1986) Lancet , vol.328 , pp. 763-767
    • Old, J.M.1    Fitches, A.2    Heath, C.3    Thein, S.L.4    Weatherall, D.J.5
  • 71
    • 84932611834 scopus 로고    scopus 로고
    • Clinical aspects of βthalassemia and related disorders
    • ed. MH Steinberg, BG Forget, DR Higgs, DJ Weatherall. Cambridge, UK: Cambridge Univ. Press. 2nd ed.
    • Olivieri NF, Weatherall DJ. 2009. Clinical aspects of βthalassemia and related disorders. In Disorders of Hemoglobin, ed. MH Steinberg, BG Forget, DR Higgs, DJ Weatherall, pp. 357-416. Cambridge, UK: Cambridge Univ. Press. 2nd ed.
    • (2009) Disorders of Hemoglobin , pp. 357-416
    • Olivieri, N.F.1    Weatherall, D.J.2
  • 72
    • 77954607742 scopus 로고    scopus 로고
    • Large scale screening for haemoglobin disorders in southern vietnam: Implications for avoidance andmanagement.br
    • O'Riordan S, Hien TT, Miles K, Allen A, Quyen NN, et al. 2010. Large scale screening for haemoglobin disorders in southern Vietnam: Implications for avoidance andmanagement.Br. J. Haematol. 150:359-64
    • (2010) J. Haematol , vol.150 , pp. 359-364
    • O'Riordan, S.1    Hien, T.T.2    Miles, K.3    Allen, A.4    Quyen, N.N.5
  • 73
    • 0018099170 scopus 로고
    • Application of endonucleasemapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion
    • Orkin SH, Alter BP, Altay C, Mahoney MJ, Lazarus H, et al. 1978. Application of endonucleasemapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N. Engl. J. Med. 299:166-72
    • (1978) N. Engl. J. Med , vol.299 , pp. 166-172
    • Orkin, S.H.1    Alter, B.P.2    Altay, C.3    Mahoney, M.J.4    Lazarus, H.5
  • 74
    • 0019949838 scopus 로고
    • Linkage ofβ-Thalassaemia mutations andβ-globin gene polymorphisms withDNApolymorphisms in humanβ-globin gene cluster
    • Orkin SH, KazazianHHJr, Antonarakis SE, Goff SC, BoehmCD, et al. 1982. Linkage ofβ-Thalassaemia mutations andβ-globin gene polymorphisms withDNApolymorphisms in humanβ-globin gene cluster. Nature 296:627-31
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Goff, S.C.4    Boehm, C.D.5
  • 76
    • 0018777020 scopus 로고
    • The molecular basis of a-Thalassemias: Frequent occurrence of dysfunctional aloci among non-Asians with Hb H disease
    • Orkin SH, Old JM, Lazarus H, Altay C, Gurgey A, et al. 1979. The molecular basis of a-Thalassemias: Frequent occurrence of dysfunctional aloci among non-Asians with Hb H disease. Cell 17:33-43
    • (1979) Cell , vol.17 , pp. 33-43
    • Orkin, S.H.1    Old, J.M.2    Lazarus, H.3    Altay, C.4    Gurgey, A.5
  • 78
    • 0016228694 scopus 로고
    • The severe form of a thalassaemia is caused by a haemoglobin gene deletion
    • Ottolenghi S, Lanyon WG, Paul J, Williamson R, Weatherall DJ, et al. 1974. The severe form of a thalassaemia is caused by a haemoglobin gene deletion. Nature 251:389-92
    • (1974) Nature , vol.251 , pp. 389-392
    • Ottolenghi, S.1    Lanyon, W.G.2    Paul, J.3    Williamson, R.4    Weatherall, D.J.5
  • 80
    • 75849133408 scopus 로고    scopus 로고
    • Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean
    • Penman BS, Pybus OG, Weatherall DJ, Gupta S. 2009. Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean. Proc. Natl. Acad. Sci. USA 106:21242-46
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 21242-21246
    • Penman, B.S.1    Pybus, O.G.2    Weatherall, D.J.3    Gupta, S.4
  • 83
    • 0035897912 scopus 로고    scopus 로고
    • Genetic determinants of jaundice and gallstones in haemoglobin E βthalassaemia
    • Premawardhena A, Fisher CA, Fathiu F, De Silva S, Perera W, et al. 2001. Genetic determinants of jaundice and gallstones in haemoglobin E βthalassaemia. Lancet 357:1945-46
    • (2001) Lancet , vol.357 , pp. 1945-1946
    • Premawardhena, A.1    Fisher, C.A.2    Fathiu, F.3    De Silva, S.4    Perera, W.5
  • 84
    • 0038351780 scopus 로고    scopus 로고
    • The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): Hematologic and evolutionary implications
    • Premawardhena A, Fisher CA, Liu YT, Verma IC, De Silva S, et al. 2003. The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): Hematologic and evolutionary implications. Blood Cells Mol. Dis. 31:98-101
    • (2003) Blood Cells Mol. Dis , vol.31 , pp. 98-101
    • Premawardhena, A.1    Fisher, C.A.2    Liu, Y.T.3    Verma, I.C.4    De Silva, S.5
  • 86
    • 25144493415 scopus 로고    scopus 로고
    • Hemoglobin: A historical perspective
    • ed. MH Steinberg, BG Forget, DR Higgs, RL Nagel. Cambridge, UK: Cambridge Univ. Press. 1st ed.
    • Ranney HM. 2001. Hemoglobin: A historical perspective. In Disorders of Hemoglobin, ed. MH Steinberg, BG Forget, DR Higgs, RL Nagel, pp. 1-24. Cambridge, UK: Cambridge Univ. Press. 1st ed.
    • (2001) Disorders of Hemoglobin , pp. 1-24
    • Ranney, H.M.1
  • 87
    • 78649719826 scopus 로고    scopus 로고
    • Reversing the hemoglobin switch
    • Sankaran VG, Nathan DG. 2010. Reversing the hemoglobin switch. N. Engl. J. Med. 363:2258-60
    • (2010) N. Engl. J. Med , vol.363 , pp. 2258-2260
    • Sankaran, V.G.1    Nathan, D.G.2
  • 88
    • 43749090221 scopus 로고    scopus 로고
    • Genomic medicine and developing countries: Creating a room of their own
    • Seguin B, Hardy BJ, Singer PA, Daar AS. 2008. Genomic medicine and developing countries: Creating a room of their own. Nat. Rev. Genet. 9:487-93
    • (2008) Nat. Rev. Genet , vol.9 , pp. 487-493
    • Seguin, B.1    Hardy, B.J.2    Singer, P.A.3    Daar, A.S.4
  • 89
    • 52149097957 scopus 로고    scopus 로고
    • Human genomic variation initiatives in emerging economies and developing countries
    • Seguin B, Hardy BJ, Singer PA, Daar AS. 2008. Human genomic variation initiatives in emerging economies and developing countries. Nat. Rev. Genet. 9:S3-9
    • (2008) Nat. Rev. Genet , vol.9
    • Seguin, B.1    Hardy, B.J.2    Singer, P.A.3    Daar, A.S.4
  • 90
    • 3442901365 scopus 로고
    • Una nova entita nosologica: La malatia microdrepanocitica
    • Silvestroni E, Bianco I 1946. Una nova entita nosologica: La malatia microdrepanocitica. Haematologica 29:453-88
    • (1946) Haematologica , vol.29 , pp. 453-488
    • Silvestroni, E.1    Bianco, I.2
  • 92
    • 84873089406 scopus 로고    scopus 로고
    • Relationship between serum ferritin and liver iron concentration in hemoglobin E thalassemia
    • St Pierre T, Olivieri NF, Thayalasuthan V, Muraca G, Weatherall D, et al. 2011. Relationship between serum ferritin and liver iron concentration in hemoglobin E thalassemia. Haematologica 96:69
    • (2011) Haematologica , vol.96 , pp. 69
    • St Pierre, T.1    Olivieri, N.F.2    Thayalasuthan, V.3    Muraca, G.4    Weatherall, D.5
  • 93
    • 0006145974 scopus 로고
    • Chronic hemolytic anemia associated with thalassemia and sickling trait
    • Sturgeon P, ItanoHA, ValentineWN. 1952. Chronic hemolytic anemia associated with thalassemia and sickling trait. Blood 7:350-57
    • (1952) Blood , vol.7 , pp. 350-357
    • Sturgeon, P.1    Itano, H.A.2    Valentine, W.N.3
  • 95
    • 0016144661 scopus 로고
    • Genetic lesion in homozygous a-Thalassaemia (hydrops foetalis
    • Taylor JM, Dozy A, Kan YW, Varmus HE, Lie-Injo LE, et al. 1974. Genetic lesion in homozygous a-Thalassaemia (hydrops foetalis). Nature 251:392-93
    • (1974) Nature , vol.251 , pp. 392-393
    • Taylor, J.M.1    Dozy, A.2    Kan, Y.W.3    Varmus, H.E.4    Lie-Injo, L.E.5
  • 96
    • 3442884243 scopus 로고
    • Sulla resistenza della emoglobina alla denaturazione alcalina in alcune sindromi emopatiche
    • Vecchio F 1946. Sulla resistenza della emoglobina alla denaturazione alcalina in alcune sindromi emopatiche. Pediatria 54:545-48
    • (1946) Pediatria , vol.54 , pp. 545-548
    • Vecchio, F.1
  • 98
    • 0348178940 scopus 로고
    • Haemoglobin h disease in thailand: A genetical study
    • Wasi P, Na-Nakorn S, Suingdumrong A. 1964. Haemoglobin H disease in Thailand: A genetical study. Nature 204:907-8
    • (1964) Nature , vol.204 , pp. 907-908
    • Wasi, P.1    Na-Nakorn, S.2    Suingdumrong, A.3
  • 99
    • 0347980450 scopus 로고
    • Abnormal haemoglobins in the neonatal period and their relationship to thalassaemia
    • Weatherall DJ. 1963. Abnormal haemoglobins in the neonatal period and their relationship to thalassaemia. Br. J. Haematol. 9:265-77
    • (1963) Br. J. Haematol , vol.9 , pp. 265-277
    • Weatherall, D.J.1
  • 100
    • 0035320886 scopus 로고    scopus 로고
    • Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
    • Weatherall DJ. 2001. Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias. Nat. Rev. Genet. 2:245-55
    • (2001) Nat. Rev. Genet , vol.2 , pp. 245-255
    • Weatherall, D.J.1
  • 101
    • 42049110421 scopus 로고    scopus 로고
    • Genetic variation and susceptibility to infection: The red cell and malaria
    • Weatherall DJ. 2008. Genetic variation and susceptibility to infection: The red cell and malaria. Br. J. Haematol. 141:276-86
    • (2008) Br. J. Haematol , vol.141 , pp. 276-286
    • Weatherall, D.J.1
  • 102
    • 77952592557 scopus 로고    scopus 로고
    • The importance of micromapping the gene frequencies for the common inherited disorders of haemoglobin
    • Weatherall DJ. 2010. The importance of micromapping the gene frequencies for the common inherited disorders of haemoglobin. Br. J. Haematol. 149:635-37
    • (2010) Br. J. Haematol , vol.149 , pp. 635-637
    • Weatherall, D.J.1
  • 103
    • 77953952024 scopus 로고    scopus 로고
    • The inherited diseases of hemoglobin are an emerging global health burden
    • Weatherall DJ. 2010. The inherited diseases of hemoglobin are an emerging global health burden. Blood 115:4331-36
    • (2010) Blood , vol.115 , pp. 4331-4336
    • Weatherall, D.J.1
  • 105
    • 77955899256 scopus 로고    scopus 로고
    • Thalassemia as a global health problem: Recent progress towards its control in the developing countries
    • Weatherall DJ. 2010. Thalassemia as a global health problem: Recent progress towards its control in the developing countries. Ann. N. Y. Acad. Sci. 1202:17-23
    • (2010) Ann. N. Y. Acad. Sci , vol.1202 , pp. 17-23
    • Weatherall, D.J.1
  • 106
    • 80052265880 scopus 로고    scopus 로고
    • The challenge of haemoglobinopathies in resource-poor countries
    • Weatherall DJ. 2011. The challenge of haemoglobinopathies in resource-poor countries.Br. J. Haematol. 154:736-44
    • (2011) Br J. Haematol , vol.154 , pp. 736-744
    • Weatherall, D.J.1
  • 107
    • 0014685817 scopus 로고
    • Disordered globin synthesis in thalassemia
    • Weatherall DJ, Clegg JB. 1969. Disordered globin synthesis in thalassemia. Ann. N. Y. Acad. Sci. 165:242-52
    • (1969) Ann. N. Y. Acad. Sci , vol.165 , pp. 242-252
    • Weatherall, D.J.1    Clegg, J.B.2
  • 108
    • 0016845439 scopus 로고
    • The achain termination mutants and their relationship to thalassaemia
    • Weatherall DJ, Clegg JB. 1975. The achain termination mutants and their relationship to thalassaemia. Philos. Trans. R. Soc. Lond. B 271:411-55
    • (1975) Philos. Trans. R. Soc. Lond , vol.B271 , pp. 411-455
    • Weatherall, D.J.1    Clegg, J.B.2
  • 110
    • 0014746252 scopus 로고
    • The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome
    • Weatherall DJ, Clegg JB, Boon WH. 1970. The haemoglobin constitution of infants with the haemoglobin Bart's hydrops foetalis syndrome. Br. J. Haematol. 18:357-67
    • (1970) Br. J. Haematol , vol.18 , pp. 357-367
    • Weatherall, D.J.1    Clegg, J.B.2    Boon, W.H.3
  • 111
    • 0013846440 scopus 로고
    • Globin synthesis in thalassemia: An in vitro study
    • Weatherall DJ, Clegg JB, NaughtonMA. 1965. Globin synthesis in thalassemia: An in vitro study. Nature 208:1061-65
    • (1965) Nature , vol.208 , pp. 1061-1065
    • Weatherall, D.J.1    Clegg, J.B.2    Naughton, M.A.3
  • 112
    • 0019784411 scopus 로고
    • Hemoglobin H disease and mental retardation-A new syndrome or a remarkable coincidence?
    • Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, et al. 1981. Hemoglobin H disease and mental retardation-A new syndrome or a remarkable coincidence? N. Engl. J. Med. 305:607-12
    • (1981) N. Engl. J. Med , vol.305 , pp. 607-612
    • Weatherall, D.J.1    Higgs, D.R.2    Bunch, C.3    Old, J.M.4    Hunt, D.M.5
  • 113
    • 0343066834 scopus 로고
    • Thalassaemia in a Gurkha family
    • Weatherall DJ, Vella F. 1960. Thalassaemia in a Gurkha family. Br. Med. J. 1960(5187):1711-13
    • (1960) Br. Med. J. , vol.5187 , pp. 1711-1713
    • Weatherall, D.J.1    Vella, F.2
  • 114
    • 0019861756 scopus 로고
    • An intron nucleotide sequence variant in a cloned β+ thalassaemia globin gene
    • Westaway D, Williamson R. 1981. An intron nucleotide sequence variant in a cloned β+ thalassaemia globin gene. Nucleic Acids Res. 9:1777-88
    • (1981) Nucleic Acids Res , vol.9 , pp. 1777-1788
    • Westaway, D.1    Williamson, R.2
  • 115
    • 0042076791 scopus 로고
    • Racial or familial anemia of children: Associated with fundamental disturbances of bone and pigment metabolism (Cooley-Von Jaksch
    • Whipple GH, Bradford WL. 1932. Racial or familial anemia of children: Associated with fundamental disturbances of bone and pigment metabolism (Cooley-Von Jaksch). Am. J. Dis. Child. 44:336-65
    • (1932) Am. J. Dis. Child , vol.44 , pp. 336-365
    • Whipple, G.H.1    Bradford, W.L.2
  • 117
    • 27644566200 scopus 로고    scopus 로고
    • Negative epistasis between the malaria-protective effects of a+-Thalassemia and the sickle cell trait
    • WilliamsTN, MwangiTW, Wambua S, Peto TE, Weatherall DJ, et al. 2005. Negative epistasis between the malaria-protective effects of a+-Thalassemia and the sickle cell trait. Nat. Genet. 37:1253-57
    • (2005) Nat. Genet , vol.37 , pp. 1253-1257
    • Williams, T.N.1    Mwangi, T.W.2    Wambua, S.3    Peto, T.E.4    Weatherall, D.J.5
  • 118
    • 70349869344 scopus 로고    scopus 로고
    • Bacteraemia in Kenyan children with sickle-cell anaemia: A retrospective cohort and case-control study
    • Williams TN, Uyoga S, Macharia A, Ndila C, McAuley CF, et al. 2009. Bacteraemia in Kenyan children with sickle-cell anaemia: A retrospective cohort and case-control study. Lancet 374:1364-70
    • (2009) Lancet , vol.374 , pp. 1364-1370
    • Williams, T.N.1    Uyoga, S.2    Macharia, A.3    Ndila, C.4    McAuley, C.F.5
  • 119
    • 84879287709 scopus 로고    scopus 로고
    • World distribution, population genetics, and health burden of the hemoglobinopathies
    • Williams TN, Weatherall DJ. 2012. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb. Perspect. Med. 2:A011692
    • (2012) Cold Spring Harb. Perspect. Med , vol.2
    • Williams, T.N.1    Weatherall, D.J.2
  • 120
    • 0003664740 scopus 로고    scopus 로고
    • World Health Organ. Geneva:World Health Organ
    • World Health Organ. 2002. Genomics and World Health. Geneva:World Health Organ
    • (2002) Genomics and World Health


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