title: Haemoglobin D and D thalassaemia. A family report, comprising 18 members.
abstract: On the occasion of a double heterozygote case of D haemoglobinopathy/beta-thalassaemia (D thalassaemia) from Epirus (Greece), a family study was performed. It comprised 18 members, belonging to 3 generations, and revealed the presence of an additional D thalassaemia case, 4 D haemoglobinopathy heterozygotes, 5 beta-thalassaemia heterozygotes and 7 normal persons. The D thalassaemia cases were initially considered as Hb D homozygotes, according to their electrophoretic phenotype; the family study, however, showed the true nature of their stigmata. These patients presented with mild jaundice, splenomegaly and moderate anaemia, while the Hb D heterozygotes was asymptomatic.
mesh_terms: D000328:Adult; D000368:Aged; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D004906:Erythrocyte Count; D005260:Female; D006115:Greece; D006400:Hematocrit; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal