Please use this identifier to cite or link to this item: http://repository.kln.ac.lk/handle/123456789/22864
Title: Alpha thalassaemia and extended alpha globin genes in Sri Lanka
Authors: Suresh, S.
Fisher, C.
Ayyub, H.
Premawardhena, A.
Allen, A.
Perera, A.
Bandara, D.
Olivieri, N.
Weatherall, D.
Keywords: alpha-Globins-genetics
alpha-Thalassemia-epidemiology
alpha-Thalassemia-genetics
Sri Lanka-epidemiology
Hemoglobin E-genetics
Thalassemia
Issue Date: 2013
Publisher: Elsevier-Academic Press
Citation: Blood cells, Molecules & Diseases.2013;50(2):93-8
Abstract: 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.
Description: Indexed in MEDLINE; Scopus
URI: http://repository.kln.ac.lk/handle/123456789/22864
ISSN: 1079-9796 (Print)
1096-0961 (Electronic)
Appears in Collections:Journal/Magazine Articles

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