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Hemoglobin
international journal for hemoglobin research
Volume 14, 1990 - Issue 5
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Original Article

Hb Sun Prae or α213o(H13)Ala → Proβ2 A New Unstable Variant Occurring In Low Quantities

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Pages 479-489 | Received 01 Dec 1989, Accepted 20 Mar 1990, Published online: 07 Jul 2009
 

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 α-thalassemia deletion (αα/αα), 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 α-globin genes were not possible.

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