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 |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.