α&amp;#8304;-Thalassemia and Related Disorders in Northeast Thailand: A Molecular and Hematological Characterization

Sae-ung, Nattaya; Fucharoen, Goonnapa; Sanchaisuriya, Kanokwan; Fucharoen, Supan

doi:10.1159/000096857

Cited by 71 publications

(40 citation statements)

References 40 publications

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“…Previously described gap-PCR and allele specific PCR (ASPCR) were used to identify six forms of α-thal mutations common in Southeast Asia, including SEA (NG_000006.1: g.26264_45564del19301) and THAI (NG_000006.1: g.10664_44164del33501) deletions causing α 0 -thal, −3.7 (NG_000006.1:g.34164_37967del3804) and −4.2 kb (exact deletion breakpoints are not available) deletions causing α + -thal, Hb CS (HBA2:c.427T>C), and Hb Ps (HBA2: c.429A > T) (Sanchaisuriya et al 2002;Fucharoen et al 2003;Boonsa et al 2004;Sae-ung et al 2006). Based on our experience of using these methods in routine practice, the false negative rate was less than 0.1%.…”

Section: Dna Analysismentioning

confidence: 99%

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Nguyen

Sanchaisuriya

et al. 2017

J Community Genet

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Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority. Hemoglobin and DNA analyses were carried out to diagnose thalassemia and hemoglobinopathies. Of the total participants, 56.1% (95% CI = 51.1-61.1) carried thalassemia genes. A remarkably high frequency of hemoglobin Constant Spring (Hb CS) of 23.8% (95% CI = 19.7-28.4) was noted. The frequency of α + -thalassemia (−3.7 kb deletion) was 26.4% (95% CI = 22.1-31.1), while hemoglobin E (Hb E) and hemoglobin Paksé (Hb Ps) were identified at frequencies of 14.6 (95% CI = 11.2-18.5) and 2.6% (95% CI = 1.4-5.0), respectively. Further analysis of α-globin gene haplotype revealed the same Hb CS haplotype (+ − M + + −) as of the Co-Tu minority, a neighboring minority of the Ta-Oi, indicating that these two minorities may share the same ancestors. This information will be helpful for further studies in population genetics, as well as the development prevention and control program in the region.

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Section: Dna Analysismentioning

confidence: 99%

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Nguyen

Sanchaisuriya

et al. 2017

J Community Genet

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“…13,14 Polymerase chain reaction (PCR) and related methods are routinely utilized to identify b-thalassaemia mutations and six a-thalassaemia alleles common in Thailand (ie. a 0 -thalassaemia SEA & THAI deletions, a þ -thalassaemia 3.7 & 4.2 kb deletions, Hb Constant Spring and Hb Pakse´1 [5][6][7][8][9][10][11][12][13][14][15][16][17] ). Thalassaemia genotypes were defined.…”

Section: Subjects Haematological and Dna Analysesmentioning

confidence: 99%

Routine screening for α-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart's

Prayalaw

Fucharoen

2014

J Med Screen

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Objective: To evaluate an immunochromatographic (IC) strip assay for Hb Bart's as a routine screening test for a-thalassaemia in area with a high prevalence of thalassaemia and haemoglobinopathies. Methods: A total of 300 adult screen positive blood specimens were collected at an ongoing thalassaemia screening programme in northeast Thailand. Routine screening was done using red blood cell indices, osmotic fragility, and dichlorophenolindophenol tests. The IC strip assay for haemoglobin Bart's was performed on all samples. The result was evaluated against thalassaemia genotypes determined using standard haemoglobin and DNA analyses. Results: Of 300 subjects investigated, Hb and DNA analyses identified 32 with normal genotype. The remaining subjects carried thalassaemia with as many as 16 different genotypes. Hb Bart's was detected in all cases, with several a 0 -thalassaemia (SEA type) related disorders. Of cases with a þ -thalassaemia, 86.1% showed a positive result; 100 out of 103 Hb E carriers, all homozygous Hb E and b-thalassaemia trait were negative. Nine out of 17 cases with b-thalassaemia/Hb E disease, and one case of double heterozygote for Hb Q-Thailand and Hb E returned positive results. The overall sensitivity and specificity of the IC strip assay for detecting a 0 -thalassaemia were 100% and 73.1%, respectively. Conclusion: The results showed a high sensitivity for screening for a 0 -thalassaemia using IC strip assay for Hb Bart's. This simple method, used in combination with conventional screening protocols, should lead to a significant reduction in the number of referral cases for DNA analysis. Cost effectiveness in each population should be taken into consideration.

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“…The molecular techniques mainly used for the identification of deletions/mutations in the α-globin gene include multiplex gap-PCR, the amplification refractory mutation system (ARMS), the restriction fragment length polymorphisms (RFLP) or the reverse dot blot analysis [5,6,7]. The StripAssay is another molecular technique by which the mutations in human DNA are identified using a strip method in a single procedure.…”

Section: Introductionmentioning

confidence: 99%

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

et al. 2010

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Background/Aim: α-Thalassemia (α-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the α-globin chains, and it has been found at a high incidence in Turkey. Our aim in this study was to determine the frequency and molecular properties of α-thal in Adana, Turkey. Material and Methods: A total of 3,000 individuals comprising premarital couples or patients with anemia were screened between 2007 and 2008. Hematological parameters were analyzed using an automatic cell counter, and to detect the carriers of hemoglobin variants, high-performance liquid chromatography was used. Molecular screening of the α-globin gene was carried out by an Alpha-Globin StripAssay® which is based on multiplex PCR for specific amplification. Results: We have identified 225 cases with α-thal and found that the prevalence of α-thal is 7.5% in this area. In molecular analyses, the α-thal gene mutations α^3.7, α^4.2, --^MED, --^20.5, α^PA-2α, ααα^anti-3.7, and α^PA-1α were detected. Conclusion: Our results showed that the α-thal mutations represent a great heterogeneity and that the -α^3.7 deletion has the highest frequency in Adana.

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α⁰-Thalassemia and Related Disorders in Northeast Thailand: A Molecular and Hematological Characterization

Cited by 71 publications

References 40 publications

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Routine screening for α-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart's

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

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