Hb Kurosaki [α7(A5)Lys → Glu (AAG →GAG)]: An α2-Globin Gene Mutation Found in Thailand

Lukana Ngiwsara Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand

Chantragan Srisomsap Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand

Pranee Winichagoon Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, 73170, Thailand

Suthat Fucharoen Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Nakornpathom, 73170, Thailand

Bussara Sae-Ngow Division of Hematology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand

Jisnuson Svasti Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, 10400, ThailandCorrespondence[email protected]

Abstract

Hb Kurosaki [α7(A5)Lys → Glu (AAG →GAG)], has been found for the first time in Thailand. The 30-year-old Thai male had a normal hematological profile at the steady state, but showed an abnormal hemoglobin (Hb) present at a level of 28%. Protein characterization was performed by automated sequencer analysis of the abnormal α-globin chain and amino acid analysis of the abnormal αT-1,2 peptide. Direct DNA sequence analysis of selectively amplified segments of the α1 and α2 genes showed that codon 7 of the α2-globin gene was heterozygous for AAG (Lys) and GAG (Glu). This was confirmed by restriction endonuclease digestion with Eco31I.

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Hb Kurosaki [α7(A5)Lys → Glu (AAG →GAG)]: An α2-Globin Gene Mutation Found in Thailand

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Hb Kurosaki [α7(A5)Lys → Glu (AAG →GAG)]: An α2-Globin Gene Mutation Found in Thailand

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