A new gene deletion involving the alpha 2-, alpha 1-, and theta 1-globin genes in a black family with Hb H disease

Am J Hematol. 1992 Apr;39(4):299-300. doi: 10.1002/ajh.2830390412.

Abstract

A new deletion of approximately 8.5 kb that includes the alpha 2-, alpha 1-, and theta 1-globin genes was detected in a father and newborn son of a black family from Georgia. In the newborn baby the chromosome with the deletion occurred together with a rightward (-alpha 3.7) deletion chromosome. The resulting Hb H disease was detected at birth by the high level of Hb Bart's; a moderate anemia with severe microcytosis and hypochromia was present at the age of 5 months. A review of cord blood testing results for a period of over 20 years, involving at least 200,000 black newborns, indicated that this baby was the first with a level of Hb Bart's in excess of 10-15%; this underscores the rarity of alpha-thalassemia-1 in this population.

Publication types

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

MeSH terms

  • Adult
  • Black People / genetics*
  • Chromatography, High Pressure Liquid
  • Chromosome Deletion*
  • DNA / genetics
  • Female
  • Globins / genetics*
  • Hemoglobin H / analysis
  • Hemoglobins, Abnormal / analysis
  • Humans
  • Incidence
  • Infant, Newborn
  • Male
  • Restriction Mapping
  • Thalassemia / blood
  • Thalassemia / epidemiology
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Globins
  • DNA
  • Hemoglobin H
  • hemoglobin Bart's