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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]

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.

Hemoglobin (Hb) variants caused by an elongation of the β-globin chain are rare. In this study, we present the first case of lib 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 β chain by 11 amino acids. [ABSTRACT FROM AUTHOR]

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.

Investigates the presence of the hemoglobin variant Ube-2 in Taiwanese subjects. Substitution of the asparagine for an aspartic acid residue at position 68 of the alpha-globin chain; Findings of the hemogram; Amplification of the alpha2-globin genes; Polymerase chain reactions.

Abstract: Objectives: The current study aimed at the rapid identification of the copy number of α-globin genes for the diagnosis of α-thalassemia. Design and methods: To identify the copy number of α-globin genes in α-thalassemia, we developed a novel method using a multiplex polymerase chain reaction (PCR) in combination with the CE analysis. Results: The proposed method provides a rapid detection of the common α-globin gene deletions. Sixty-six patients with α-thalassemia and 46 normal controls were included in the present study. The obtained results showed good correlation with those obtained by gap PCR. Moreover, a low amount of maternal cell contamination in the fetus specimen for the prenatal diagnosis of hemoglobin Barts hydrops fetalis as well as the rare multiplicated α-globin genes can be identified using this method. Conclusion: This method provides a convenient and efficient tool for the rapid identification of the copy number of α-globin genes in α-thalassemia and the individuals with α-globin gene multiplication. [Copyright &y& Elsevier]

Abstract: Objectives: The present study was aimed at identifying hemoglobin (Hb) alpha variants. Design and methods: To identify Hb variants, a high-resolution melting (HRM) method was performed. Results: The diagnostic strategy was found to be successful in identifying Hb alpha variants including HBA1:c.27G>T, (Hb Hekinan) HBA1:c.46G>C (Hb Ottawa), HBA2:c.31_33AG (Hb α2-globin gene codon del AG), HBA1:c.223G>C (Hb G-Taichung), HBA1:p.Phe118_Thr119insIle (Hb Phnom Penh), HBA2:c.369C>G (Hb Westmead), HBA2:c.364G>A (or HBA1) (Hb Owari), HBA2:c.377T>C (Hb Quong Sze), and HBA2:c.427T>C (Hb Constant Spring). Each Hb variant could be readily and easily identified through the difference in plotted curves. In addition, the Hb variants could be distinguished to be located at either HBA1 or HBA2 gene. Conclusions: The HRM analysis is found to be a good tool for identifying Hb variants in alpha globin genes. [Copyright &y& Elsevier]