Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene

Hemoglobin. 2010;34(5):439-44. doi: 10.3109/03630269.2010.509185.

Abstract

We report two new abnormal hemoglobins (Hbs) caused by mutations on the α2 gene. One resulted into an Asn→His substitution at position 68, the other in a Leu→Gln substitution at position 125. The first mutation was observed in a 61-year-old North European Belgian male during Hb A(1c) analysis and subsequently in other members of his family. The variant was expressed at a normal level and caused no hematological abnormalities in the carriers. The second was found in a 27-year-old Turkish male living in The Hague, The Netherlands, who presented with microcytic hypochromic parameters without iron deficiency and was also carrier of the common α2 IVS-I (-5 nt) deletion.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • alpha-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin St. Truiden
  • hemoglobin Westeinde