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Objective: This study was undertaken to identify HBB gene mutation., Design and Methods: Herein we evaluated high-resolution melting analysis in the identification of HBB mutations., Results: We have successfully established a diagnostic strategy for identifying HBB gene mutations including c.-78A>G, c.-79A>G, c.2T>G, c.79_80insT, c.84_85insC, c.123_124insT, c.125_128delTCTT, c.130 G>T, c.170G>A, c.216_217ins A and c.316-197 C>T from wild-type DNA using HRM analysis. The results of HRM analysis were confirmed by direct DNA sequencing., Conclusions: In summary, we report that HRM analysis is an appealing technique for the identification of HBB mutations. We also believe that HRM can be used as a method for prenatal diagnosis of beta-thalassemia.

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.

Discusses the discovery of alpha-Thalassemia (thal) and a variant similar to hemoglobin (Hb) Prato [α31(B12)Arg→Ser (α2)] in a Taiwanese. Observed hematological results; Methods used to detect the alpha-thal mutations; Amplification of alpha1-, alpha2- and beta-globin genes.

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]