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We recently observed a heterozygote for Hb Hekinan in a Taiwanese subject. The molecular lesion of Hb Hekinan is a substitution of G→T at codon 27 of the α1-globin gene, which abolishes an HaeIII restriction enzyme site. Hb Hekinan [α27(B8)Glu→Asp, GAG→GAC (α2)] has not been found in Taiwan. This variant can be detected by high performance liquid chromatography (HPLC) but not by capillary or cellulose electrophoresis. [ABSTRACT FROM AUTHOR]

Studies a Taiwanese family in which the father carried an alpha chain variant and the mother was a carrier of alpha-thalassemia-1 with assorted genotypes in their offspring. Hematological and genetic analyses of blood samples; Correlations between the clinical manifestations and genotypes.

Studies a Taiwanese family in which the mother was a carrier of beta-thalassemia with an alpha chain variant and the father was a carrier of a beta chain variant. Correlations between clinical manifestations and genotypes; Analysis of key issues of interest; Theoretical significance to scientific studies on hemoglobin.

Examines an unstable hemoglobin in a Taiwanese patient. Substitution of the leucine for a proline residue at position 32 of the beta-globin gene; Findings of hemograms; Mutation of codon 32 for beta-globin gene.

Examines the hemoglobin variant in a Chinese family. Replacement of glutamic acid by a glutamine residue at position 30 of alpha-globin; Amplification of alpha1- and alpha2-globin genes; Findings of the hemogram.

We recently observed a heterozygote for Hb Hekinan in a Taiwanese subject. The molecular lesion of Hb Hekinan is a substitution of G-->T at codon 27 of the alpha1-globin gene, which abolishes an HaeIII restriction enzyme site. Hb Hekinan [alpha27(B8)Glu-->Asp, GAG-->GAC (alpha2)] has not been found in Taiwan. This variant can be detected by high performance liquid chromatography (HPLC) but not by capillary or cellulose electrophoresis.

Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidant agents, glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1), and to determine their roles in 41 patients with beta-thal major. Our results showed that the GSTM1 and GSTT1 null genotypes were not associated with any incidence of endocrine dysfunction (including diabetes mellitus, hypogonadism, hypothyroidism, and growth hormone deficiency), liver function, or impaired left ventricular ejection fraction (LVEF). The GSTM1 null genotype, but not the GSTT1 null genotype, was associated with a decreased signal intensity ratio on cardiac magnetic resonance imaging (MRI). Our results suggest that genetic variations of the GSTM1 enzyme are associated with cardiac iron deposition in patients with beta-thal major.

Hemoglobin (Hb) variants caused by an elongation of the beta-globin chain are rare. In this study, we present the first case of Hb Tak in a Taiwanese. Hb Tak is caused by an insertion of the dinucleotides AC into codon 146 that abolishes the normal stop codon at position 147. This insertion results in a frameshift causing elongation of the beta chain by 11 amino acids.