Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report

Hemoglobin. 2015;39(5):355-8. doi: 10.3109/03630269.2015.1059850. Epub 2015 Jul 21.

Abstract

We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation signal of the α2-globin gene (HBA2: c.*93_*94delAA). The patient, a 27-year-old son of a consanguineous couple, needs regular blood transfusions every 6 months.

Keywords: Hb H disease; polyadenylation (polyA) site mutations; α-Thalassemia (α-thal).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Blood Transfusion
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Female
  • Hemoglobin H / genetics
  • Homozygote*
  • Humans
  • Iran
  • Male
  • Middle Aged
  • Mutation*
  • Poly A*
  • Polyadenylation / genetics*
  • RNA, Messenger / chemistry
  • RNA, Messenger / genetics*
  • alpha-Globins / genetics*
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / therapy

Substances

  • RNA, Messenger
  • alpha-Globins
  • Poly A
  • Hemoglobin H