A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia.
A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.
D000468:Alkalies; D004588:Electrophoresis, Cellulose Acetate; D004739:England; D005260:Female; D005914:Globins / Q000096:biosynthesis; D006448:Hemoglobin J / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007231:Infant, Newborn; D010375:Pedigree; D012802:Sicily; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D000468:Alkalies; D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; D005914:Globins