Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta122 (GH5) Phe-->Ser], a probable case of germ line mutation, and Hb Olinda [beta22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence

Eur J Haematol. 2009 Oct;83(4):378-82. doi: 10.1111/j.1600-0609.2009.01296.x. Epub 2009 Jun 10.

Abstract

We describe here two new unstable beta-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC-->TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal beta-globin chain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Hemolytic / genetics*
  • Brazil
  • Chronic Disease
  • Germ-Line Mutation
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Point Mutation
  • Protein Stability
  • Sequence Deletion
  • beta-Globins / genetics

Substances

  • Hemoglobins, Abnormal
  • beta-Globins
  • hemoglobin Caruaru
  • hemoglobin Olinda