A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote

Am J Hematol. 1993 Jun;43(2):144-5. doi: 10.1002/ajh.2830430214.

Abstract

We have detected a novel alpha-thalassemia-2 with a large (18+ kb) deletion involving the alpha 1- and theta 1-globin genes and the 3' hypervariable region sequence. Unexpectedly, the heterozygote had a mild anemia with a marked microcytosis and hypochromia, and an in vitro alpha/beta chain synthesis ratio of 0.62-0.66. It is suggested that the deletion includes a sequence that is involved in the in cis regulation of the alpha 2-globin gene.

Publication types

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

MeSH terms

  • Adult
  • Erythrocytes, Abnormal / metabolism*
  • Gene Deletion*
  • Globins / genetics
  • Hemoglobins / metabolism*
  • Heterozygote*
  • Humans
  • Male
  • alpha-Thalassemia / blood*
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins
  • Globins