delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.
A case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia was found during a screening programme in Sicily. The proband, a 4-year-old girl, showed a clinical picture of thalassaemia intermedia. Hb F (85.12% by the Singer method) was G gamma A gamma type. The parents and the brother were delta beta-thalassaemia carriers. Structural analysis of Hb F showed both G gamma and A gamma chains in the father, but only A gamma chains in the mother.
D001797:Blood Protein Electrophoresis; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D012802:Sicily; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin