A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia

Hemoglobin. 2001 Feb;25(1):79-89. doi: 10.1081/hem-100103072.

Abstract

We describe the molecular and the hematological characteristics of a Korean family with a dominantly inherited beta-thalassemia. Carriers were characterized by moderate anemia, hypochromia, microcytosis, elevated Hb A2 and Hb F levels, and splenomegaly. DNA analysis revealed a CTG (Leu) to CCG (Pro) substitution at codon 114 of the beta-globin gene, that leads to a highly unstable hemoglobin variant, Hb Durham-N.C./Brescia, and this was linked to the beta haplotype V, [+----+-], and framework 2. RNA analysis showed that the proband had comparable levels of mutant and normal beta-mRNA. Translation of the mutant mRNA would give rise to non-functional hyperunstable beta-globin chains, and their degradation would, by placing an additional burden on the proteolytic process of the red blood cell precursors, result in a more severe phenotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Codon / genetics
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Globins / genetics*
  • Haplotypes / genetics
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Korea / epidemiology
  • Male
  • Middle Aged
  • Mutation, Missense
  • Phenotype
  • Protein Biosynthesis
  • RNA, Messenger / biosynthesis
  • Splenomegaly / etiology
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • RNA, Messenger
  • hemoglobin Brescia
  • Globins