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The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β thalassaemia in Sri Lanka. As well as the common deletion forms of α(+) thalassaemia three families from an ethnic minority were found to carry a novel form of α(0) thalassaemia, one family carried a previously reported form of α(0) thalassaemia, --(THAI), and five families had different forms of non-deletional thalassaemia. The patients with HbE β thalassaemia who had co-inherited α thalassaemia all showed an extremely mild phenotype and reduced levels of HbF and there was a highly significant paucity of α(+) thalassaemia in these patients compared with the normal population. Extended α gene arrangements, including ααα, αααα and ααααα, occurred at a low frequency and were commoner in the more severe phenotypes of HbE β thalassaemia. As well as emphasising the ameliorating effect of α thalassaemia on HbE β thalassaemia the finding of a novel form of α(0) thalassaemia in an ethnic minority, together with an unexpected diversity of forms of non-deletion α thalassaemia in Sri Lanka, further emphasises the critical importance of micro-mapping populations for determining the frequency of clinically important forms of the disease.

Original publication

DOI

10.1016/j.bcmd.2012.10.001

Type

Journal article

Journal

Blood Cells Mol Dis

Publication Date

02/2013

Volume

50

Pages

93 - 98

Keywords

Adult, Child, Child, Preschool, Consanguinity, Crossing Over, Genetic, Female, Genotype, Hemoglobin E, Hemoglobins, Abnormal, Humans, Islam, Male, Middle Aged, Pedigree, Phenotype, Point Mutation, Polyadenylation, Pregnancy, Pregnancy Complications, Hematologic, RNA Splice Sites, Sequence Deletion, Sri Lanka, alpha-Globins, alpha-Thalassemia