The Survey of Abnormal Hemoglobins in the Kobe District: HB G-Coushatta [β22(B4)GLU→ALA], HB Ankara [β10(A7)ALA→ASP], HB Handa [α90(FG2)LYS→MET], and HB J-HABANA [α71(E20)ALA→GLU]

Thalassemias and hemoglobinopathies are very common among Southeast Asian populations, particularly in Thailand, where it is estimated that nearly 30% of the population carries at least one such disorder. Moreover, the heterogeneity of different mutant alpha- and beta-globin alleles contributes to the complexity in diagnosis and proper management, as more than 60 thalassemia syndromes and hemoglobinopathies have been described. Herein we report a further case of Hb G-Coushatta [beta22(B4)Glu-->Ala (GAA-->GCA)] (also known as G-Saskatoon, G-Hsin Chu and G-Taegu) in a Thai family in which the mother was found to have an unusual hemoglobin (Hb) anomaly in combination with Hb E [beta26(B8)Glu-->Lys, GAG-->AAG]. We applied our recently described polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique to scan the beta-globin genes and found an aberrant pattern in exon 1. The molecular analysis by direct genomic sequencing successfully identified the nucleotide mutation (codon 22, GAA-->GCA), and a novel amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for this variant is described.

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Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

Chinchang

Viprakasit

2007

Hemoglobin

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Pathology Consultation on HbA1c Methods and Interferences

Rhea

Molinaro

2014

American Journal of Clinical Pathology

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Hb F-Tokyo or α₂^G_Γ234(B16)Val↠Ile Found in a Newborn Baby in Japan

et al. 1986

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The Survey of Abnormal Hemoglobins in the Kobe District: HB G-Coushatta [β22(B4)GLU→ALA], HB Ankara [β10(A7)ALA→ASP], HB Handa [α90(FG2)LYS→MET], and HB J-HABANA [α71(E20)ALA→GLU]

Cited by 7 publications

References 15 publications

Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

Pathology Consultation on HbA1c Methods and Interferences

Hb F-Tokyo or α₂^G_Γ234(B16)Val↠Ile Found in a Newborn Baby in Japan

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The Survey of Abnormal Hemoglobins in the Kobe District: HB G-Coushatta [β22(B4)GLU→ALA], HB Ankara [β10(A7)ALA→ASP], HB Handa [α90(FG2)LYS→MET], and HB J-HABANA [α71(E20)ALA→GLU]

Cited by 7 publications

References 15 publications

Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

Further Identification of Hb G-Coushatta [β22(B4)Glu→Ala (GAA→GCA)] in Thailand by the Polymerase Chain Reaction-Single-Strand Conformation Polymorphism Technique and by Amplification Refractory Mutation System-Polymerase Chain Reaction

Pathology Consultation on HbA1c Methods and Interferences

Hb F-Tokyo or α2GΓ234(B16)Val↠Ile Found in a Newborn Baby in Japan

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Product

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Hb F-Tokyo or α₂^G_Γ234(B16)Val↠Ile Found in a Newborn Baby in Japan