A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AG T>AG G); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt

Hemoglobin. 2019 Jul-Sep;43(4-5):273-276. doi: 10.1080/03630269.2019.1680382. Epub 2019 Oct 28.

Abstract

High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the β-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocytosis resulting in Hb Vanderbilt, a high oxygen affinity variant.

Keywords: Hb Vanderbilt; P50; erythrocytosis; oxygen affinity; β-globin gene.

MeSH terms

  • Amino Acid Substitution*
  • Arginine
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Oxygen / metabolism
  • Polycythemia / congenital
  • Polycythemia / genetics
  • Serine
  • beta-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • beta-Globins
  • hemoglobin Vanderbilt
  • Serine
  • Arginine
  • Oxygen

Supplementary concepts

  • Polycythemia, primary familial and congenital