Delta-Beta Thalassaemia in a Pathan Family

J Coll Physicians Surg Pak. 2017 Nov;27(11):722-724.

Abstract

Delta-beta-thalassaemia (δβ-thalassaemia) is a rare type of thalassaemia which mostly results from deletion of δ and β genes with preservation of γ genes. δβ-thalassaemia is classified into (δβ)+ and (δβ)0 types. The (δβ)0-thalassemia is further divided into GγAγ(δβ)0-thalassaemia and Gγ(Aγδβ)0-thalassaemia. In heterozygous state, (δβ)0mutations give rise to phenotype resembling β-thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A2. In homozygotes, the clinical picture is usually that of thalassaemia intermedia and the patients have 100% Hb-F. Workup of a 1-year child suffering from pallor, chronic ill health, and splenomegaly referred to our laboratory with the suspicion of β-thalassaemia, ultimately resulted in a diagnosis on polymerase chain reaction as having homozygous inversion/deletion Gγ(Aγδβ)0-thalassaemia. Her family members were also investigated.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Polymerase Chain Reaction
  • Sequence Deletion
  • Thalassemia*
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*
  • delta-Thalassemia / diagnosis*
  • delta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal

Supplementary concepts

  • Delta-Beta Thalassemia