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Prevalence of thalassaemia and haemoglobinopathies in Cambodian children

Carnley, B., Gilbert, A., Prior, J., Lim, E., Devenish, R., Sullivan, S.G., Wise, C., Bittles, A.H. and Erber, W.N. (2004) Prevalence of thalassaemia and haemoglobinopathies in Cambodian children. In: Genetics and Population Health, 8 - 10 August 2004, Fremantle, Western Australia


Alpha-thalassaemia and HbE have been reported to occur at high frequency (80%) in children with hypochromic microcytic anaemia from Siem Reap. In addition, HbPS has been reported from this region. The study aims to document the prevalence of anaemia, a- and b- thalassaemia and other haemoglobinopathies in children presenting sequentially to the Angkor Hospital for Children. Two hundred and sixty children between 5 months and 16 years of age were assessed with full blood counts, films, ferritin levels, HPLC, a-globin multiplex PCR and b-globin PCR. 110 anaemic subjects were identified with 61 cases of microcytic anaemia. Six subjects were iron deficient. 163 children (63%) had a haemoglobinopathy. The high prevalence of HbE (29%) in the study population is consistent with previous reports. By comparison b-thalassaemia (0.7%) occurs at lower frequency than previously reported. Alpha-thalassaemia occurs at high frequency (35.4% of subjects), but a large majority of subjects (78%) have a single gene deletion, with double deletions occurring at low frequency (5%). HbPS occurs at low frequency whilst the frequency of triplicated a genes in the survey population is consistent with that described in other populations. Although haemoglobinopathies are common in Cambodian children, the majority of abnormalities (heterozygous HbE and a3.7) are clinically insignificant. Only 2 cases with clinically severe haemoglobinopathy (HbH disease and Eb thalassaemia) were identified.

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