Homozygosity for a New Type ofGγ(Aγδβ)°-Thalassemia in a Malaysian Male
- 1 January 1986
- journal article
- research article
- Published by Taylor & Francis in Hemoglobin
- Vol. 10 (4) , 353-363
- https://doi.org/10.3109/03630268608996867
Abstract
Hematological and clinical data are presented for a young Malay patient with a homozygous (.delta..beta.).degree.-thalassemic condition. His red blood cells contained 100% fetal hemoglobin with .alpha. and G.gamma. chains only. Detailed gene mapping defined a large deletion with a 5'' end between the Aha III and Apa I sites, some 200-400 bp 5'' to the A.gamma. globin gene and a 3'' end beyond sequences 17-18 kb 3'' to the .beta. globin gene. This G.gamma.(A.gamma..delta..beta.).degree.-type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of G.gamma.A.gamma.(.delta..beta.).degree.-thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.This publication has 22 references indexed in Scilit:
- Hereditary persistence of fetal hemoglobin or (delta beta)o- thalassemia: three types observed in South-Chinese familiesBlood, 1985
- DEVELOPMENTAL REGULATION OF HUMAN GLOBIN GENESAnnual Review of Biochemistry, 1985
- High Performance Liquid Cbromatographic Separation of Globin Chains on a Large-Pore C4ColumnJournal of Liquid Chromatography, 1984
- (Aγδβ)° thalassaemia: similarity of phenotype in four different molecular defects, including one newly describedBritish Journal of Haematology, 1984
- Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G? and A? types of ? chainBiochemical Genetics, 1984
- Dutch β°‐thalassaemia: a 10 kilobase DNA deletion associated with significant γ‐chain productionBritish Journal of Haematology, 1984
- Construction of Human Gene Libraries from Small Amounts cf Peripheral Blood: Analysis of β-Like Globin GenesHemoglobin, 1981
- Restriction mapping of a new deletion responsible forGγ(δβ)° thalassaemiaNucleic Acids Research, 1981
- Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.Journal of Clinical Investigation, 1979
- Measuring Relative Electrophoretic Mobilities of Mutant Hemoglos and Globin ChainsHemoglobin, 1978