Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation

Hemoglobin. 2011;35(4):411-6. doi: 10.3109/03630269.2011.598986.

Abstract

A new unstable α-globin variant was detected in a child with hypoxemia and anemia. The child's mother was found to carry the same mutation. The hemoglobin (Hb) variant co-eluted with Hb A(2) by cation exchange high performance liquid chromatography (HPLC) and appeared cathodal to Hb A and anodal to Hb F by isoelectric focusing. It represented less than 20% of the total Hb and was unstable by isopropanol testing. Gene sequencing identified a missense mutation on the α2 gene [HBA2:c.140T>C]. Oxygen dissociation and P(50) test results were normal.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Anemia / genetics
  • Anemia / metabolism
  • Binding Sites
  • Child
  • Chromatography, High Pressure Liquid
  • Heme / analogs & derivatives
  • Heme / chemistry
  • Heme / metabolism
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Hypoxia / genetics
  • Hypoxia / metabolism
  • Male
  • Models, Molecular
  • Mutation, Missense*
  • Protein Structure, Tertiary
  • alpha-Globins / chemistry
  • alpha-Globins / genetics*
  • alpha-Globins / metabolism

Substances

  • Hemoglobins, Abnormal
  • alpha-Globins
  • heme a
  • Heme