Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia

Hemoglobin. 1994 Jan;18(1):11-8. doi: 10.3109/03630269409014141.

Abstract

We have characterized the structural abnormality of a new alpha chain mutant found in a Kurdish family. The clinical and hematological investigation of eight individuals have shown that the alpha variant is associated with a beta(0)-thalassemia mutation (nonsense codon 39). The tryptic peptide map and sequencing of the abnormal peptide revealed the substitution of an aspartic acid by a tyrosine residue at position 47 of the alpha chain; furthermore, selective amplification and molecular analysis of both alpha genes have assigned the new mutation to the alpha 2 gene. The variant, named Hb Kurdistan, is clinically silent but the percentage of this hemoglobin found in the only double heterozygote for beta (0)-thalassemia and alpha-Kurdistan, presumably indicates a lower affinity of the abnormal chain for the beta polypeptides.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Anemia, Hypochromic / complications*
  • Anemia, Hypochromic / genetics
  • Base Sequence
  • Blood Protein Electrophoresis
  • Chromatography, Ion Exchange
  • Codon
  • Female
  • Globins / genetics*
  • Graves Disease / complications
  • Hemoglobinopathies / complications*
  • Hemoglobinopathies / genetics
  • Hemoglobins, Abnormal / genetics
  • Hemoglobins, Abnormal / isolation & purification*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • beta-Thalassemia / complications*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Kurdistan
  • Globins