Hb Suan‐Dok [α109(G16)Leu→Arg; CTG→CGG (α2)] Described in a Patient of African Ancestry

Autor: Piero C. Giordano, Nicole Akkermans, Cornelis L. Harteveld, Marlies E. Regtuijt, Peter van Delft
Rok vydání: 2004
Předmět:
Zdroj: Hemoglobin. 28:173-176
ISSN: 1532-432X
0363-0269
DOI: 10.1081/hem-120040309
Popis: A 58‐year‐old Black female from Curacao (West Indies) was recently referred to our Laboratory for a persistent microcytic hypochromic anemia. An analysis 13 years earlier had shown no abnormal hemoglobin (Hb) fractions and a balanced β/α synthetic ratio. The hematological indices were again compatible with thalassemia and no abnormal fractions were observed on electrophoresis or high‐performance liquid chromatography (HPLC). None of the seven common α‐thalassemia (thal) deletion defects were present. Direct sequencing of the α2 gene revealed a CTG→CGG single base substitution at codon 109. This mutation was previously described in a Thai patient (Hb Suan‐Dok), inducing Hb H disease in association with a – –SEA allele. In contrast with earlier reports we were unable to identify any native Hb fraction. The balanced β/α ratio indicated that α2‐Suan‐Dok is formed but does not form tetramer formation unless α‐thal is present.
Databáze: OpenAIRE
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