[Hemoglobin Haná or alpha 2 beta 2 63 (E7) His-Asn: a new unstable hemoglobin variant with a paradoxically different clinical manifestations in smokers and non-smokers in the same family]

Vnitr Lek. 1997 May;43(5):267-72.
[Article in Czech]

Abstract

The authors describe the identification and the clinical manifestations of a new structural variant of haemoglobin found in three subjects from two generations of a Moravian family. It is manifested by mild haemolytic anaemia with Heinz bodies in the proband and a slightly elevated value of methaemoglobin. The sequential analysis of the beta-globin gene provided evidence that the cause is mutation CAT-AAT in codon 63 which leads to the exchange of distal histidine /E7/ for asparagine. The ratio of beta X:beta A is 38:62. The mother with the same mutation is asymptomatic. The relative amount of beta X:beta A mRNA transcripts in mother and daughter are equal. This indicates that the clinical differences are not due to a different gene expression. The mother is a heavy smoker with an elevated CO-Hb level that probably protect the mutant against oxidative denaturation and increases thus the stability of Hb-Haná. The authors discuss also the finding of two abnormal stripes assessed by three electrophoretic methods.

Publication types

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

MeSH terms

  • Anemia, Hemolytic, Congenital / genetics
  • Child
  • Female
  • Gene Expression*
  • Globins / genetics
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Methemoglobinemia / genetics
  • Pedigree
  • Point Mutation
  • Sequence Analysis, DNA
  • Smoking / genetics*

Substances

  • Hemoglobins, Abnormal
  • Globins