Beta-thalassaemia mutations in west Malaysia: a new thalassaemia clinical score system.
The clinical severity of the mutations causing beta-thalassaemia in West Malaysia is presented. Thalassaemia clinical scores (Thal CS), a scoring system, has been formulated to predict clinical severity. It is the type of beta-thalassaemia mutation present that decides on the clinical phenotype. The most severe beta-thalassaemia mutation is assigned a score of 4. A score of 8 indicates a severe thalassaemia phenotype. Alpha-thalassaemia, increased synthesis of Hb F, and glucose-6-phosphate deficiency may ameliorate the clinical condition at phenotype level, and the co-inheritance of hereditary ovalocytosis aggravates it.
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Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur.
D005319:Fetal Hemoglobin / Q000096:biosynthesis; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications; D006801:Humans; D008296:Malaysia; D008297:Male; D008722:Methods; D009154:Mutation; D010641:Phenotype; D017085:alpha-Thalassemia / Q000175:diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
D005319:Fetal Hemoglobin