Hb sun prae or α213o(h13)ala → proβ2 a new unstable variant occurring in low quantities

M. Harkness, D. R. Harkness, F. Kutlar, A. Kutlar, J. B. Wilson, B. B. Webber, J. F. Codrington, T. H.J. Huisman

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

A severe hemolytic anemia with microcytosis and hypochromia was present in a young adopted Indian patient. Reversed phase high performance liquid chromatographic methodology and heat stability tests detected an unstable α chain which was present in 3 to 5% of the total hemoglobin. A larger quantity of the αx chain was obtained by preparative reversed phase high performance liquid chromatography. Structural analyses identified an Ala → Pro replacement at position 130 of the a chain. The instability of the variant, named Hb Sun Prairie, is comparable to that of Hb Bibba [αl36 (H19)Leu → Pro]. Gene mapping failed to detect an αthalassemia deletion (αalpha;alpha;alpha; while dot-blot analysis of amplified DNA with synthetic probes localized a G → C mutation in codon 130 (resulting in the Ala → Pro mutation) of the α2-globin genes of both chromosomes. These results suggest a homozygosity for the G → C mutation and the condition α2(G → C)αl/α2(G → C)αl adequately explains the rather severe clinical status of this child, including the marked microcytosis and hypochromia. Unfortunately, family studies to exclude the presence of a large deletion involving all ζ and αglobin genes were not possible.

Original languageEnglish (US)
Pages (from-to)479-489
Number of pages11
JournalHemoglobin
Volume14
Issue number5
DOIs
StatePublished - 1990

ASJC Scopus subject areas

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

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