Hb Kurosaki [alpha7(A5)Lys -->Glu (AAG --> GAG)]: an alpha2-globin gene mutation found in Thailand

Lukana Ngiwsara; Chantragan Srisomsap; Pranee Winichagoon; Suthat Fucharoen; Bussara Sae-Ngow; Jisnuson Svasti

Hb Kurosaki [alpha7(A5)Lys -->Glu (AAG --> GAG)]: an alpha2-globin gene mutation found in Thailand

Hemoglobin. 2005;29(2):155-9.

Authors

Lukana Ngiwsara¹, Chantragan Srisomsap, Pranee Winichagoon, Suthat Fucharoen, Bussara Sae-Ngow, Jisnuson Svasti

Affiliation

¹ Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.

PMID: 15921168

Abstract

Hb Kurosaki [alpha 7(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 alpha-globin chain and amino acid analysis of the abnormal alphaT-1,2 peptide. Direct DNA sequence analysis of selectively amplified segments of the alpha1 and alpha2 genes showed that codon 7 of the alpha2-globin gene was heterozygous for AAG (Lys) and GAG (Glu). This was confirmed by restriction endonuclease digestion with Eco31I.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromatography, High Pressure Liquid / methods
DNA Mutational Analysis / methods
Genetic Variation / genetics*
Globins / genetics*
Hemoglobins, Abnormal / genetics*
Humans
Male
Point Mutation / genetics*
Thailand

Substances

Hemoglobins, Abnormal
hemoglobin Kurosaki
Globins