Molecular and hematological characteristics of a novel form of α-globin gene triplication: The hemoglobin St.Luke's-Thailand [α95(G2)Pro→Arg] or Hb St. Luke's [A2] HBA2

Singha, Kritsada; Fucharoen, Goonnapa; Jetsrisuparb, Arunee; Fucharoen, Supan

doi:10.1016/j.clinbiochem.2013.01.022

Cited by 8 publications

(7 citation statements)

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“…Association of this Hb variant with α 0 -thalassemia leads to the α-thalassemia disease known as Hb QH disease [31]. We have described in details of other Hb variants including Hb Siam (α1 15GGT-CGT, Gly-Arg ), Hb Queens (α1 34CTG-CGG, Leu-Arg ), Hb Beijing (α2 16AAG-AAC, Lys-Asn ), Hb Hekinan (α1 27GAG-GAC, Glu-Asp ), Hb Thailand (α 56AAG-ACG, Lys-Thr ), Hb St. Luke’s-Thailand (α2 95CCG-CGG, Pro-Arg ), Hb Phnom Penh (α1 117/118, Ile insertion ) and Hb Nakhon Ratchasima (α2 63GCC-GTC, Ala-Val ) previously [13], [21]–[23], [26], [27]. The remaining Hb variants namely Hb Q-India (α1 64GAC-CAC, Asp-His ), Hb Dunn (α 6GAC-AAC, Asp-Asn ), Hb G-Honolulu (α 30GAG-CAG, Glu-Gln ) and Hb J-Wenchang-Wuming (α1 11AAG-CAG, Lys-Gln ), rarely been found in our population, are briefly described here.…”

Section: Discussionmentioning

confidence: 99%

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

et al. 2014

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BackgroundHemoglobin (Hb) variants are structurally inherited changes of globin chains. Accurate diagnoses of these variants are important for planning of appropriate management and genetic counseling. Since no epidemiological study has been conducted before, we have investigated frequencies, molecular and hematological features of Hb variants found in a large cohort of Thai subjects.Materials and MethodsStudy was conducted on 26,013 unrelated subjects, inhabiting in all geographical parts of Thailand over a period of 11 years from January 2002-December 2012. Hb analysis was done on high performance liquid chromatography (HPLC) or capillary electrophoresis (CE). Mutations causing Hb variants were identified using PCR and related techniques.ResultsAmong 26,013 subjects investigated, 636 (2.4%) were found to carry Hb variants. Of these 636 subjects, 142 (22.4%) carried α-chain variants with 13 different mutations. The remaining included 451 (70.9%) cases with 16 β-chain variants, 37 (5.8%) cases with Hb Lepore (δβ-hybrid Hb) and 6 (0.9%) cases with a single δ-chain variant. The most common α-globin chain variant was the Hb Q-Thailand (α74GAC-CAC, Asp-His) which was found in 101 cases (15.8%). For β-globin chain variants, Hb Hope (β136GGT-GAT, Gly-Asp) and Hb Tak (β146+AC, Ter-Thr) are the two most common ones, found in 121 (19.0%) and 90 (14.2%) cases, respectively. Seven Hb variants have never been found in Thai population. Hb analysis profiles on HPLC or CE of these variants were illustrated to guide presumptive diagnostics.ConclusionsHb variants are common and heterogeneous in Thai population. With varieties of thalassemias and hemoglobinopathies in the population, interactions between them leading to complex syndromes are common and render their diagnoses difficult in routine practices. Knowledge of the spectrum, molecular basis, genotype-phenotype correlation and diagnostic features should prove useful for prevention and control of the diseases in the region.

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Section: Discussionmentioning

confidence: 99%

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

et al. 2014

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“…Screening for α-thalassaemia and β-thalassaemia mutations found in Thailand is routinely performed in our laboratory using PCR-based methods 3. The α-globin gene triplication (ααα anti3.7 ) was examined as described 4. The entire β-globin gene of the patient was sequenced using ABI PRISM 3730xl analyser (Applied Biosystems, Foster City, California, USA) (figure 1).…”

Section: Methodsmentioning

confidence: 99%

Dominant β-thalassaemia with unusually high Hb A₂and Hb F caused by β^CD121(−G)(HBB:c.364delG) in exon 3 of β-globin gene

et al. 2019

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We describe a dominant β-thalassaemia caused by a deletion of G at nucleotide position 364 in exon 3 of the β-globin gene. The heterozygosity of this mutation was found in a 36-year-old Thai patient who had moderate hypochromic microcytic anaemia with haemolytic blood picture. Haemoglobin (Hb) analysis revealed relatively higher Hbs A2 (6.8%) and F (4.7%) as compared with those of β0-thalassaemia (n=278) and β+-thalassaemia (n=55) carriers in our series. Secondary structure prediction of the elongated β-globin chain showed that the α-helix at the C-terminal is disrupted dramatically by the random coil and β-sheet, which should result in a highly unstable β-globin variant, undetectable in peripheral blood and a dominant clinical phenotypic feature.

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“… 2 , 7 , 11 , 12 , 13 Screening for α-globin gene triplication (ααα anti3.7 ) was done using a PCR method as previously described. 14 Common β-thalassemia genes found in Thailand were examined using allele-specific PCR assays. 15 …”

Section: Methodsmentioning

confidence: 99%

Prevalence of Thalassemia Among Newborns: A Re-Visited After 20 Years of a Prevention and Control Program in Northeast Thailand.

Chaibunruang

Sornkayasit

Chewasateanchai

et al. 2018

Mediterr J Hematol Infect Dis

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BackgroundTo provide accurate prevalence information of thalassemia in northeast Thailand, authors performed thalassemia screening in newborns after 20 years implementation of a prevention and control program.MethodsStudy was done on 350 cord blood specimens collected consecutively at Maternal and Child Hospital, Regional Health Promotion Center 7, Khon Kaen, Thailand. All kinds of α- and β-thalassemias were identified using combined hemoglobin (Hb) and DNA analyses.ResultsAmong 350 newborns examined, subjects with thalassemia genes were identified in 184 (52.6%) cases with as many as 22 different genotypes. The most prevalent one was Hb E (39.1%). The incidence of 3.1% α0-thalassemia, 25.9% α+-thalassemia, 5.4% Hb Constant Spring and 1.4% of Hb Paksé were encountered. Heterozygous β-thalassemia was found in 2 cases (0.6%). Hb capillary electrophoresis could demonstrate Hb E in all cases with Hb E and detected different levels of Hb Bart’s for different α-thalassemia genotypes but not in all cases with α-thalassemia. No newborn with severe thalassemia diseases was encountered.ConclusionThis study reveals that α-thalassemia, β-thalassemia, and Hb E carriers as well as complex thalassemia syndromes are still prevalence and indicates a need for continuing a prevention and control program in the region.

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Molecular and hematological characteristics of a novel form of α-globin gene triplication: The hemoglobin St.Luke's-Thailand [α95(G2)Pro→Arg] or Hb St. Luke's [A2] HBA2

Cited by 8 publications

References 21 publications

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

Dominant β-thalassaemia with unusually high Hb A₂and Hb F caused by β^CD121(−G)(HBB:c.364delG) in exon 3 of β-globin gene

Prevalence of Thalassemia Among Newborns: A Re-Visited After 20 Years of a Prevention and Control Program in Northeast Thailand.

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Molecular and hematological characteristics of a novel form of α-globin gene triplication: The hemoglobin St.Luke's-Thailand [α95(G2)Pro→Arg] or Hb St. Luke's [A2] HBA2

Cited by 8 publications

References 21 publications

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration

Dominant β-thalassaemia with unusually high Hb A2and Hb F caused by βCD121(−G)(HBB:c.364delG) in exon 3 of β-globin gene

Prevalence of Thalassemia Among Newborns: A Re-Visited After 20 Years of a Prevention and Control Program in Northeast Thailand.

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Dominant β-thalassaemia with unusually high Hb A₂and Hb F caused by β^CD121(−G)(HBB:c.364delG) in exon 3 of β-globin gene