The first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore found in Spain

Hemoglobin. 2005;29(3):215-9. doi: 10.1081/hem-200066321.

Abstract

Hb E-Saskatoon [beta22(B4)Glu-->Lys] does not cause any clinical symptoms in the heterozygous state. The homozygous state shows moderate phenotype expression. It has also been detected in association with beta-thalassemia. We present the first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore. This unusual combination of mutations does not aggravate the clinical picture, as only microcytosis and hypochromia have been observed. Hb E-Saskatoon can only be correctly characterized by ion exchange high performance liquid chromatography (HPLC) or by DNA sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hypochromic / blood
  • Anemia, Hypochromic / genetics*
  • Chromatography, High Pressure Liquid
  • Chromatography, Ion Exchange
  • DNA Mutational Analysis
  • Female
  • Hemoglobin E / analysis
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Middle Aged
  • Spain

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Lepore Baltimore
  • Hemoglobin E
  • hemoglobin E Saskatoon