HbHope/HbS and HbS/beta-thal double compound heterozygosity in a Mauritanian family: clinical and biochemical studies

Ann Hematol. 2003 Jul;82(7):423-6. doi: 10.1007/s00277-003-0661-x. Epub 2003 May 23.

Abstract

The hemoglobin Hope was discovered in a Mauritanian family that comes from Gorgol in the southwest of the country. The family belongs to the Soninké ethnic group, which is one of the black population groups in Mauritania. Along with this abnormal hemoglobin, HbS and beta-thalassemia were also found. This family, which we refer to as D, was encountered during a survey we conducted to study hemoglobinopathies in Mauritania. First the father was identified to carry an association of HbS and HbHope, then the study was extended to the entire family members: the wife who was found to have a beta-thalassemia trait and their three children who were found to carry HbS/beta-thalassemia mutations each. All together this family carries three different mutations that resulted in a double compound heterozygosity HbHope/HbS and HbS/beta-thal.

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Family Health
  • Hemoglobin, Sickle / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin, Sickle
  • Hemoglobins, Abnormal
  • hemoglobin Hope