Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)]

Hemoglobin. 2005;29(1):69-75.

Abstract

Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TCT-->TAT); beta9(A6)Ser-->Tyr] on the first exon of the beta-globin gene and Hb Passy [codon 81 (TCC-->CCC); alpha81(F2)Ser-->Pro (alpha2)] on the second exon of the alpha2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal).

MeSH terms

  • Amino Acid Substitution / genetics*
  • Amino Acids / genetics
  • Anemia, Hypochromic / genetics
  • Codon / genetics*
  • Exons / genetics*
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Point Mutation / genetics*
  • alpha-Thalassemia / genetics

Substances

  • Amino Acids
  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Brem-sur-Mer
  • hemoglobin Passy