[Double heterozygote hemoglobin D/B0 thalassemia. Report of 3 cases in a Portuguese family].
The first Portuguese cases of a combination of Hb D and B0 thalassaemia are reported. The structure of the Hb variant was identified as Hb D Los Angeles, Punjab, Chicago, Portugal. The cases reported belong to one family living in the south of the country: a woman and her two sons. Twice, in two different generations, women with a Hb D gene, married men with B0 thalassaemia trait. The hypochromic and microcytic red cell morphology in the propositi have been the first abnormalities for subsequent investigations.
D000328:Adult; D002648:Child; D005260:Female; D006454:Hemoglobins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C032001:hemoglobin D; C020622:hemoglobin B
Double hétérozygotie hémoglobine D/B0 thalassémie. Communication de trois cas dans une famille portugaise.