First case report of Hemoglobin Bunbury (Beta codon 94 Asp→Asn, GAC→AAC) a rare variant with high oxygen affinity causing erythrocytosis in Thailand Hemoglobin Bunbury causing erythrocytosis in Thailand

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ณัฏฐิฤทัย จันทร์โพธิ์
ณัฐพัชร์ ทวัชสมลักษณ์
นพดล ศิริธนารัตนกุล

Abstract

Hemoglobin Bunbury, the amino acid substitution (GAC→AAC) at codon 94 of the beta globin gene, is one of several high oxygen affinity hemoglobin variants which can cause compensatory erythrocytosis. We investigated a 27-year-old Thai male presenting a case of compensatory erythrocytosis. The results from complete blood count test showned Hb 17.8 g/dl and Hct 52.6% while physical examination revealed the absence of hepatosplenomegaly. Then, the hemoglobin typing by capillary electrophoresis (CE) and high performance liquid chromatography (HPLC) methods were examined. The result from capillary electrophoresis (CE) and high performance liquid chromatography (HPLC) showed Hb A = 53.4%, Hb A2 = 2.7%, Hb F = 43.9% and Hb A = 47.9%, Hb A2 = 44.3% and Hb F 0.8%. Both methods could not be used to diagnosis abnormal hemoglobin. The beta globin gene sequencing was investigated and showed Beta 94 (G→A) / N result. Thus, it could be used to diagnosis the Hemoglobin Bunbury heterozygote.

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รายงานผู้ป่วย (Case report)

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