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

Erin M. Guest, Kathleen A. Neville, James D. Hoyer, Martin K. Safo, Uttam Garg, Carol J. Saunders, Osheiza Abdulmalik, David L. Zwick

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)411-416
Number of pages6
JournalHemoglobin
Volume35
Issue number4
DOIs
StatePublished - Aug 1 2011

Keywords

  • Hb Lake Tapawingo
  • Oxygen saturation
  • Unstable hemoglobin (Hb)
  • α-Globin variant

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'Hb lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: A new unstable α chain hemoglobin variant associated with low systemic arterial saturation'. Together they form a unique fingerprint.

  • Cite this