Thalassaemia intermedia: a new molecular basis
- 1 February 1984
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 56 (2) , 333-337
- https://doi.org/10.1111/j.1365-2141.1984.tb03960.x
Abstract
A 5-yr-old child heterozygous for .beta.-thalassemia has the clinical picture of thalassemia intermedia. Restriction endonuclease mapping shows that the child is homozygous for a triplicated .alpha. gene complex. The greater degree of globin chain imbalance resulting from 2 additional .alpha. chain genes is the likely mechanism for this unusually severe clinical phenotype.This publication has 5 references indexed in Scilit:
- The triplicated α gene locus and β thalassaemiaBritish Journal of Haematology, 1983
- A NEW TRIPLICATED α‐GLOBIN GENE ARRANGEMENT IN MANBritish Journal of Haematology, 1981
- Two types of triplicateda-globin loci in humansNucleic Acids Research, 1981
- A novel α-globin gene arrangement in manNature, 1980
- β+-Thalassaemia, Haemoglobin S and Hereditary Elliptocytosis in a Zaïrian FamilyActa Haematologica, 1976