HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes

Am J Hematol. 1987 Apr;24(4):395-400. doi: 10.1002/ajh.2830240409.

Abstract

Data on a 24-year-old Chinese male with Hb Q-Thailand-Hb H disease are presented. The hemoglobin variant was characterized by fast microprocedures, mainly by reverse-phase high-performance liquid chromatography. Gene mapping analyses identified the alpha-thalassemia-2, which is associated with the alpha-Q chain, as caused by a 4.2-kb deletion involving the alpha 2 globin gene, while the alpha-thalassemia-1 anomaly was the common Southeast Asian type in which part of the psi zeta, the psi alpha, and the alpha 2 and alpha 1 globin genes are deleted.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acids / analysis
  • Bone Marrow Cells
  • China / ethnology
  • Chromatography, High Pressure Liquid
  • Chromosome Aberrations / blood*
  • Chromosome Disorders
  • Chromosome Mapping
  • Genetic Variation
  • Hemoglobins / analysis
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Polymorphism, Restriction Fragment Length
  • Switzerland
  • Thalassemia / blood*
  • Thalassemia / genetics

Substances

  • Amino Acids
  • Hemoglobins
  • Hemoglobins, Abnormal
  • hemoglobin Q Thailand