[Homozygous beta-thalassemia in Algeria. Study of 50 cases].
The clinical and laboratory data recorded at first presentation in 50 homozygous beta-thalassaemic untransfused children seen at the National Transfusion Centre, Algiers, are reported. These children came from 38 families, including 25 with consanguinous parents. Pallor was observed in all cases but jaundice and asthenia were present in only 11 and 10 children respectively. Splenomegaly was frequent (45 cases), as were skeletal changes mainly in the skull and face (35 cases). Haemoglobin levels ranged from 2.4 to 9.6 g/dl and MCV from 71 to 89 fl. Among these 50 patients, 34 had beta + thalassaemia and 16 beta 0 thalassaemia. Levels of foetal haemoglobin (Hb F) were similar in both groups but clinical symptoms appeared earlier in beta 0 thalassaemia patients. Thirty-seven cases were diagnosed as thalassaemia major and 6 as thalassaemia intermedia. Comparison of various parameters between siblings (20 children belonging to 9 families) showed no differences between Hb F and Hb A2 levels and clinical courses. These findings should be taken into consideration for the prenatal diagnosis of beta-thalassaemia.
D000462:Algeria; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
La beta-thalassémie homozygote en Algérie. Etude de cinquante cas.