Screening for the beta-thalassaemia trait: hazards among populations of West African Ancestry

Autor: Gabriele Tolle, F. Gibson, Graham R. Serjeant, Andreas E. Kulozik, Ian Hambleton, Margit Happich, Karlene Mason, Beryl E. Serjeant
Rok vydání: 2011
Předmět:
Zdroj: Journal of Community Genetics. 3:13-18
ISSN: 1868-6001
1868-310X
DOI: 10.1007/s12687-011-0069-6
Popis: The aim of this study was to examine the accuracy and characteristics of detecting the beta-thalassaemia trait in populations of West African ancestry. School children, aged 16-19 years, in Manchester Parish, Jamaica were screened to detect the genes which could give rise to offspring with sickle cell disease. Haematological indices and HbA(2) levels in subjects with an MCH ≤ 26 pg and an RDW 18.0 with DNA analysis in those with indices consistent with the beta thalassaemia trait were measured. The performance of published discriminant indices in distinguishing iron deficiency and beta-thalassaemia trait in this population was assessed. Of 10,148 subjects, 1,739 (17.1%) had an AA haemoglobin phenotype and red cell indices consistent with beta-thalassaemia (MCH values ≤ 26 pg, RDW 18.0) requiring estimations of HbA(2) levels. HbA(2) levels were ≥3.5% in 112 and beta-thalassaemia mutations were identified in 77 of these including the -88 CT mutation in 35 (45%), -29 AG in 19 (25%), -90 CT in 7 (9%), the IVS II-849 AG in 5 (6%) with smaller contributions from five other mutations. Discriminant indices performed poorly in the differentiation of iron deficiency and the beta-thalassaemia trait. Detection of the beta-thalassaemia trait is relatively insensitive in populations of West African ancestry partly because of the mild defects characterising beta-thalassaemia in this population and also the high prevalence of deletional alpha thalassaemia. More sensitive indicators are required for beta-thalassaemia detection to inform such populations at risk of offspring with sickle cell disease.
Databáze: OpenAIRE
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