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 language | English (US) |
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Pages (from-to) | 479-489 |
Number of pages | 11 |
Journal | Hemoglobin |
Volume | 14 |
Issue number | 5 |
DOIs | |
State | Published - 1990 |
ASJC Scopus subject areas
- Genetics(clinical)
- Biochemistry, medical
- Hematology
- Clinical Biochemistry