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 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

Fingerprint

Hemoglobin A
Lakes
Hemoglobins
Genes
Fetal Hemoglobin
Globins
2-Propanol
High performance liquid chromatography
Isoelectric Focusing
Missense Mutation
Cations
Anemia
High Pressure Liquid Chromatography
Mothers
Oxygen
Mutation
Testing
Hypoxia

Keywords

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

ASJC Scopus subject areas

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

Cite this

Hb lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C] : A new unstable α chain hemoglobin variant associated with low systemic arterial saturation. / Guest, Erin M.; Neville, Kathleen A.; Hoyer, James; Safo, Martin K.; Garg, Uttam; Saunders, Carol J.; Abdulmalik, Osheiza; Zwick, David L.

In: Hemoglobin, Vol. 35, No. 4, 01.08.2011, p. 411-416.

Research output: Contribution to journalArticle

Guest, Erin M. ; Neville, Kathleen A. ; Hoyer, James ; Safo, Martin K. ; Garg, Uttam ; Saunders, Carol J. ; Abdulmalik, Osheiza ; Zwick, David L. / Hb lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C] : A new unstable α chain hemoglobin variant associated with low systemic arterial saturation. In: Hemoglobin. 2011 ; Vol. 35, No. 4. pp. 411-416.
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