Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation

Hemoglobin. 2014;38(2):149-51. doi: 10.3109/03630269.2013.863206. Epub 2013 Dec 18.

Abstract

We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Codon / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Hemoglobin A2 / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Indonesia
  • Male
  • Pedigree
  • Point Mutation*
  • Pregnancy
  • Prenatal Diagnosis
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Adana
  • Hemoglobin A2