Homozygous G gamma delta beta thalassaemia.
This report describes the clinical and haematological findings in three siblings homozygous for G gamma delta beta thalassaemia in an Indian family. There was a mild to moderate anaemia and markedly abnormal red cell morphology. Haemoglobin analysis showed 100% Hb F, solely of the G gamma type, with a pancellular but uneven distribution. Considerable chain imbalance was detectable in globin synthesis studies. In contrast to five previously reported cases, these children were essentially asymptomatic and have never required transfusions.
D000293:Adolescent; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin; D005914:Globins / Q000096:biosynthesis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin