Thalassemia Intermedia Associated with Complex Interaction of Hb Beijing [α16(A14)Lys→Asn] and Hb E [β26(B8)Glu→Lys] with a Deletional α-Thalassemia-1 in a Thai Family

Dr. Supan Fucharoen Department of Clinical Chemistry, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand; Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, 40002, Thailand

Sunisa Chunpanich Department of Clinical Chemistry, Khon Kaen University, Khon Kaen, Thailand; The Graduate School, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand

Kanokwan Sanchaisuriya Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand

Goonnapa Fucharoen Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand

Naowarat Kunyanone Clinical Laboratory Department, Chiang Rai Prachanukrog Hospital, Chiang Rai, Thailand

Abstract

A Thai family with a complex thalassemia syndrome caused by α- and β-globin defects is described. The proband was a 14-year-old boy who had chronic hypochromic microcytic anemia. Hemoglobin (Hb) and DNA analyses demonstrated that he carried Hb Beijing [α16(A14)Lys→Asn], Hb E [β26(B8)Glu→Lys] and α-thalassemia-1 (α-thal-1). Interaction of the α^Beijing with the β^E globin chains in the proband leads to a new Hb variant, namely Hb EBeijing with different characteristics to both Hb E and Hb Beijing. Family studies showed that his father carried Hb Beijing and Hb E, whereas his mother was a simple α-thal-1 carrier. The genotype-phenotype relationship observed in this Thai family with complex hemoglobinopathies is presented and a simple DNA assay based on allele specific polymerase chain reaction (ASPCR) for detection of Hb Beijing is described.

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Thalassemia Intermedia Associated with Complex Interaction of Hb Beijing [α16(A14)Lys→Asn] and Hb E [β26(B8)Glu→Lys] with a Deletional α-Thalassemia-1 in a Thai Family

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Thalassemia Intermedia Associated with Complex Interaction of Hb Beijing [α16(A14)Lys→Asn] and Hb E [β26(B8)Glu→Lys] with a Deletional α-Thalassemia-1 in a Thai Family

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