Hb lepore in the Indian population

Hemoglobin

Volumn 27, Issue 1, 2003, Pages 7-14

  Shaji, Ramachandran V ^a   Edison, Eunice Sindhuvi ^a   Krishnamoorthy, Rajagopal ^b   Chandy, Mammen ^a   Srivastava, Alok ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Hemoglobin Lepore; HPLC; Mutation; Thalassemia

Indexed keywords

HEMOGLOBIN;

ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; DNA DETERMINATION; GENE FUSION; GENE MUTATION; GENE STRUCTURE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; INDIAN; MAJOR CLINICAL STUDY; PROTEIN VARIANT;

BASE SEQUENCE; BETA-THALASSEMIA; BLOOD TRANSFUSION; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, ION EXCHANGE; DIAGNOSTIC ERRORS; FEMALE; GLOBINS; HAPLOTYPES; HEMOGLOBIN A2; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; INDIA; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SPLENECTOMY;

EID: 0037284378     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120018431     Document Type: Article

References (24)

1. Baglioni C. The fusion of two peptide chains in Hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA 1962; 48:1880-1886.
2. Ostertag W, Smith EW. Hemoglobin-Lepore-Baltimore, a third type of a δ β crossover (δ50, β86). Eur J Biochem 1969; 10(2):371-376.
3. Barnabas J, Muller CJ. Haemoglobin-Lepore-Hollandia. Nature 1962; 194:931-932.
4. Efremov GD. Hemoglobins Lepore and anti-Lepore. Hemoglobin 1978; 2(3):197-233.
5. 0-thalassemia (frameshift codon 8, -AA). Hemoglobin 1994; 18(3):247-250.
6. Chakova L, Spasova M, Genev E. Thalassemia intermedia in an infant. Folia Med 1998; 40(1):84-87.
7. Weatherall DJ, Clegg JB. Thalassaemia Syndromes. 5th ed. Milan: Blackwell Publishers, 2001.
8. Efremov GD, Rudivic R, Niazi GA, Hunter E Jr, Huisman THJ, Schroeder WA. An individual with Hb-Lepore-Baltimore-δβ-thalassaemia in a Yugoslavian family. Scand J Haematol 1976; 16(2):81-89.
9. Lanclos KD, Patterson J, Efremov GD, Wong SC, Villegas A, Ojwang PJ, Wilson JB, Kutlar F, Huisman THJ. Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya. Hum Genet 1987; 77(1):40-45.
10. Masala B, Manca L, Wilson JB, Webber BB, Kutlar A, Huisman THJ. Hb Lepore-Baltimore in a north Sardinian family. Hemoglobin 1990; 14(3):241-246.
11. 86Ala) identified by DNA analysis in a Brazilian family. Acta Haematol 1994; 91(1):7-9.
12. IVS-II-8) in central Portugal and Spanish Alta Extremadura. Hum Genet 1997; 99(5):669-673.
13. Goncalves I, Henriques A, Raimundo A, Picanco I, Reis A, Correia E Jr, Santos E, Nogueira P, Osorio-Almeida L. Fetal hemoglobin elevation in Hb Lepore heterozygotes and its correlation with β globin cluster linked determinants. Am J Hematol 2002; 69(2):95-102.
14. Waye JS, Eng B, Patterson M, Chui DHK, Chang LS, Cogionis B, Poon AO, Olivieri NE Hb E/Hb Lepore-Hollandia in a family from Bangladesh. Am J Hematol 1994; 47(4):262-265.
15. Chouhan DM, Sharma RS, Vakil BJ, Parekh JG. Haemoglobin Lepore in an Indian family. J Indian Med Assoc 1971; 56(10):287-290.
16. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF. Rapid and simultaneous typing of Hemoglobin S, Hemoglobin C, and seven Mediterranean β-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 1993; 81(1):239-242.
17. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 1994; 83(6):1673-1682.
18. + thalassemia alleles. Blood 2000; 95(5):1879-1880.
19. anti 3.7 triplication by enzymatic amplification analysis. Br J Haematol 1993; 83(1):105-111.
20. Semenza GL, Malladi P, Surrey S, Delgrosso K, Poncz M, Schwartz E. Detection of a novel DNA polymorphism in the β-globin gene cluster. J Biol Chem 1984; 259(10):6045-6048.
21. Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 1989; 32(1):66-69.
22. Gottardi E, Losekoot M, Fodde R, Saglio G, Camaschella C, Bernini LF. Rapid identification by denaturing gradient gel electrophoresis of mutations in the γ-globin gene promoters in non-deletion type HPFH. Br J Haematol 1992; 80(4):533-538.
23. Fucharoen S, Winichagoon P, Wisedpanichkij R, Sae-Ngow B, Sriphanich R, Oncoung W, Muangsapaya W, Chowthaworn J, Kanokpongsakdi S, Bunyaratvej A, Piankijagum A, Dewaele C. Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin Chem 1998; 44(4):740-748.
24. Efremov DG, Efremov GD, Zisovski N, Stojanovski N, Kutlar F, Diaz-Chico JC, Kutlar A, Yang KG, Stoming TA, Huisman THJ. Variation in clinical severity among patients with Hb Lepore-Boston-β-thalassaemia is related to the type of β-thalassaemia. Br J Haematol 1988; 68(3):351-355.