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Hemoglobin
international journal for hemoglobin research
Volume 28, 2004 - Issue 2
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Short Communication

Two Cases of Compound Heterozygosity for Hb Hekinan [α27(B8)Glu→Asp (α1)] and α‐Thalassemia in Thailand

, M.Sc., , Ph.D., , Ph.D., , M.D. & , Ph.D.
Pages 145-150 | Received 12 Nov 2003, Accepted 04 Dec 2003, Published online: 24 Aug 2009
 

Abstract

Two unrelated cases of compound heterozygosity for Hb Hekinan [α27(B8)Glu→Asp (α1)] and α‐thalassemia have been found in Thailand. Mutations were established at protein level by peptide mapping and at the DNA level by direct sequence analysis. Proband S.S. had genotype – –SEA/α2Aα1Hekinan, βAE, while an unrelated proband, S.J., is the first case described with the genotype – –SEA/α2Aα1Hekinan, βA/ βA. Both α1Hekinan mutations were located in the α1 locus. Hb Hekinan could not be accurately estimated by HPLC, since it was poorly separated from Hb A. However IEF gave good separation of Hb Hekinan and Hb A, leading to estimates of Hb Hekinan (α2Hekinan2A and α2Hekinan2E) level as 40–43% of total Hb.

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