Variations in globin synthesis in delta-beta-thalassaemia.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Kinney, TR; Friedman, S; Cifuentes, E; Kim, HC; Schwartz, E

Published Date

  • January 1, 1978

Published In

Volume / Issue

  • 38 / 1

Start / End Page

  • 15 - 22

PubMed ID

  • 638060

Pubmed Central ID

  • 638060

International Standard Serial Number (ISSN)

  • 0007-1048

Digital Object Identifier (DOI)

  • 10.1111/j.1365-2141.1978.tb07103.x

Language

  • eng

Conference Location

  • England