Hb G-MAKASSAR [β6(A3)Glu→Ala; CODON 6 (GAG→GCG)]: MOLECULAR CHARACTERIZATION, CLINICAL, AND HEMATOLOGICAL EFFECTS

Viprakasit, Vip; Wiriyasateinkul, Aranya; Sattayasevana, Benjamas; Miles, Katie; Laosombat, Vichai

doi:10.1081/hem-120015028

Cited by 23 publications

(32 citation statements)

References 11 publications

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“…Another 7 variants, Hb C, Hb D-Punjab, Hb G-Makassar, Hb Q-Thailand, Hb Lepore-Hollandia, and Hb Hope, have been reported in all parts of Thailand [14,16,[27][28][29][30][31], but due to difference in race and ethnicity, the prevalence differs (data were shown in Table 4). As there is a high prevalence of Hb C in the southern Thai population, nearly 50% of it was found in the samples in spite of very few cases being found in other parts of Thailand [16,32].…”

Section: Discussionmentioning

confidence: 96%

Molecular basis and hematological features of hemoglobin variants in Southern Thailand

2010

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Hemoglobinopathy (abnormal hemoglobin or hemoglobin variant) is an inherited disorder that results in the abnormal structure of globin chains of the hemoglobin (Hb) molecule. Many abnormal Hbs have been characterized worldwide, including more than 20 variants in Thailand. The Bio-Rad Variant II HPLC system is used for investigating hemoglobin variants at Songklanagarind Hospital. This system has been shown to be a sensitive, specific, and reproducible method, but some hemoglobin variants such as Hb Tak and Hb D-Punjab cannot, as yet, be clearly separated by this method. The aim of this study was to investigate the prevalence of hemoglobinopathy in southern Thailand using DNA sequencing and study the severity of each hemoglobin variant. A total of 58 hemoglobin variant samples were obtained from blood samples undergoing routine hemoglobin typing at Songklanagarind Hospital. Genomic DNAs were extracted from the samples, and the globin genes were analyzed by using PCR-direct sequencing. The molecular analysis revealed eight hemoglobin variants: 28 Hb C, 12 Hb D-Punjab, 7 Hb Tak, 4 Hb G-Makassar, 2 Hb Lepore-Hollandia, 2 Hb Q-Thailand, 2 Hb O-Indonesia, and 1 Hb Hope. The distribution of hemoglobin variants in southern Thailand is associated with geographic and/or ethnic backgrounds. This study may help hematologists understand better the prevalence of hemoglobin variants and their hematological features in this region.

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Section: Discussionmentioning

confidence: 96%

Molecular basis and hematological features of hemoglobin variants in Southern Thailand

2010

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“…Many Hb variants with similar electrophoretic mobilities or HPLC profiles with those of Hb Q-Thailand and Hb QE have been reported in Asian populations e.g. Hb Tak, Hb D-Punjab, Hb S, Hb Korle-Bu, Hb Siam and Hb G-Makassar (17)(18)(19)(20)(21)(22)(23)(24). Interaction of these abnormal Hbs with other hemoglobinopathies and thalassemias can cause serious conditions (25).…”

Section: Discussionmentioning

confidence: 99%

Association of Hb Q‐Thailand with homozygous Hb E and heterozygous Hb Constant Spring in pregnancy

Sanchaisuriya

Chunpanich

Fucharoen³

et al. 2005

European J of Haematology

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Hemoglobin (Hb) Q-Thailand [alpha74(EF3): Asp-->His] is an abnormal Hb found mainly in China and South-east Asian countries. Association of the alpha(Q-Thailand) allele with alpha-thalassemia has important implications in diagnosis. We report the hitherto undescribed conditions of this variant in two unrelated pregnant Thai women. Routine Hb analyses using high-performance liquid chromatography identified abnormal Hb migrating after Hb A(2) in addition to a homozygous Hb E in the proband 1 and to a heterozygous Hb Constant Spring (Hb CS) in the proband 2. Further alpha-globin gene analysis identified that the variant was caused by the GAC to CAC mutation at codon 74 of the alpha1-globin gene corresponding to the Hb Q-Thailand, detected in cis to the 4.2 kb deletional alpha-thalassemia 2 in both cases. Interaction of the alpha(Q-Thailand) with the beta(E) globin chains in the proband 1 leads to a Hb variant, namely the Hb QE. Family study of the proband 1 showed that her non-pregnant sister had the same genotype but her father was a double heterozygote for Hb E and Hb Q-Thailand in whom both Hb Q-Thailand and Hb QE were detected. Genotype-phenotype relationships observed in these families with complex hemoglobinopathies are presented and compared with those of simple homozygote for Hb E, heterozygote for Hb CS and heterozygote for Hb Q-Thailand found in other unrelated subjects. A simple DNA assay based on allele-specific polymerase chain reaction for simultaneous detection of the Hb Q-Thailand mutation and the 4.2 kb deletional alpha-thalassemia 2 determinant was developed and validated.

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“…For example, at least seven Hb variants have been identified with the retention times in the HbA 2 window. These include HbE, Hb Lepore ( δ β ‐hybrid variant) (15), Hb Korle‐Bu (16), Hb D‐Panjab (17), Hb Tak (18, 19), Hb G‐Makassar (20) and Hb Woodville in this study, all have been reported from Thailand, making the diagnosis of such variants more confounding. Therefore, the HPLC only distinguish the presence of some frequent variants but results might be less obvious for rare variants and the use of an additional method is always required (21).…”

Section: Discussionmentioning

confidence: 85%

Hb Woodville, a rare α‐globin variant, caused by codon 6 mutation of the α1 gene

Viprakasit

Chinchang

Chotimarat

2005

European J of Haematology

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Since 1995, the national programme for the prevention and control of severe thalassaemia has been implemented in Thailand. This programme is composed of the population screening in pregnant women and couples by osmotic fragility, HbE screening and the confirmation test using haemoglobin analyses by electrophoresis or chromatography. Thereafter, several hitherto unidentified haemoglobins (Hbs) with structural defects are increasingly described and these variants are now easily studied using DNA technology. In this study, the authors describe the haematology and molecular analyses in a 28-yr-old healthy female who was identified as having an exceptionally 'high HbA2' from haemoglobin analysis. Subsequent analyses demonstrated that observed atypical 'HbA2' was, in fact, a rare innocuous alpha-globin variant, called Hb Woodville [alpha 2 6(A4); Asp --> Tyr]. For the first time, this abnormal Hb species is characterised at the molecular level.

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Hb G-MAKASSAR [β6(A3)Glu→Ala; CODON 6 (GAG→GCG)]: MOLECULAR CHARACTERIZATION, CLINICAL, AND HEMATOLOGICAL EFFECTS

Cited by 23 publications

References 11 publications

Molecular basis and hematological features of hemoglobin variants in Southern Thailand

Molecular basis and hematological features of hemoglobin variants in Southern Thailand

Association of Hb Q‐Thailand with homozygous Hb E and heterozygous Hb Constant Spring in pregnancy

Hb Woodville, a rare α‐globin variant, caused by codon 6 mutation of the α1 gene

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