Variations in globin synthesis in delta-beta-thalassaemia.
Peripheral blood globin synthesis studies were done in 11 patients with delta beta-thalassaemia trait, Hb S-delta beta-thalassaemia or delta beta/betao-thalassaemia from two black and two Caucasian families. All patients had elevated Hb F and normal or decreased Hb A2 levels and 10 had family studies confirming the diagnosis. In addition, four unrelated non-thalassaemic patients with elevated Hb F levels also had peripheral blood globin synthesis studies. The beta/alpha specific activity globin synthesis ratios in the three blacks with delta beta-thalassaemia trait were 0.60--1.04. In the four Caucasians with delta beta-thalassaemia traint, the beta/alpha ratios were 0.58--1.02. These results demonstrate a wide range of ratios overlapping those of normal controls (0.99 +/- 0.06). The betas/alpha ratios in three blacks with Hb S-delta beta-thalassaemia ranged from 0.66 to 1.00, similar to those of patients with delta beta-thalassaemia trait. In the black patient with delta beta/betao-thalassaemia, the gamma/alpha ratio was 0.67. The beta/alpha peripheral blood ratios in the four non-thalassaemia patients with elevated Hb F ranged from 1.00 to 1.11, similar to those of normal controls. These studies indicate that a decreased beta/alpha ratio is not an invariable finding in delta beta-thalassaemia in blacks or Caucasian patients and that globin synthesis data alone is insufficient to diagnose definitively heterozygotes for delta beta-thalassaemia or to distinguish this trait from non-thalassaemic haematological disorders associated with a normal percentage of Hb A2 and an elevated level of Hb F.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D014644:Genetic Variation; D005914:Globins / Q000096:biosynthesis*; D006441:Hemoglobin A / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin