Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand

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

doi:10.1016/j.bcmd.2011.05.003

Cited by 69 publications

(72 citation statements)

References 15 publications

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“…Samples with normal Hb type (A 2 A) and abnormal values of mean corpuscular volume (MCV <80 fl) and/or mean corpuscular hemoglobin (MCH <27 pg) were subject to further investigation by capillary zone electrophoresis (Capillarys II; Sebia, Leisse, France). β-Thal was diagnosed in cases with Hb A 2 >4% and MCV <80 fl (Yamsri et al , 2011. In order to provide information about cause of anemia to participants, all anemic cases (defined by Hb <12 g/dl) were also investigated further for serum ferritin using the Access Chemiluminescent Immunoassay Test Kit (Beckman Coulter Inc., CA, USA).…”

Section: Hematological Determinationsmentioning

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: Hematological Determinationsmentioning

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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“…SEA and THAI deletion, was identified using PCR-based techniques [24]. The diagnosis of β-thal was made in cases with Hb A 2 >4% accompanied by MCV values <80 fl [25]. Hb E was diagnosed based on the presence of a peak on the electropherogram at zone 4, as indicated by the manufacturer.…”

Section: Methodsmentioning

confidence: 99%

Burden of Anemia in Relation to Thalassemia and Iron Deficiency among Vietnamese Pregnant Women

et al. 2013

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Background and Aims: Information about the extent to which anemia is related to thalassemia and iron deficiency (ID) is not available in Vietnam. This study investigated the burden of anemia in relation to thalassemia and ID among Vietnamese pregnant women. Methods: A cross-sectional study was conducted in Thua Thien Hue, Central Vietnam. Blood samples taken from 399 pregnant women with a gestational age <12 weeks were analyzed. Anemia was defined as Hb levels <11 g/dl, and ID as ferritin values <15 ng/ml. Results: Out of 399 participants, 77 (19.3%) were anemic. While the prevalence of ID was 20.1%, the prevalence of ID anemia was 6.0%. The overall prevalence of thalassemia was 7.3%. Of the 77 anemic women, 24 (31.2%) had ID, and 20 (26.0%) had thalassemia genes. The rest (42.9%) were anemic due to unknown causes. Conclusions: The results indicate that ID remains a significant health burden among the study population, together with anemia caused by unknown factors. Thalassemias appear not to contribute to a great extent to anemia among Vietnamese pregnant women. Other causes need to be investigated further in order to develop an effective control program for anemia within the population.

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“…β-Thalassemia and HbE were investigated using automated capillary zone electrophoresis (Capillarys 2; Sebia, Lisses, France). Individuals with HbA 2 ≥4% and mean corpuscular volume (MCV) <80 fl were diagnosed as being β-thalassemia carriers [22]. Six common α-thalassemia mutations, α⁰-thalassemia (SEA & THAI deletion), α + -thalassemia (3.7- and 4.2-kb deletion), Hb Constant Spring (CS) and Hb Paksé, were identified using PCR-based technologies [23,24,25].…”

Section: Methodsmentioning

confidence: 99%

Proxy Indicators for Identifying Iron Deficiency among Anemic Vegetarians in an Area Prevalent for Thalassemia and Hemoglobinopathies

Wongprachum

Sanchaisuriya

et al. 2012

Acta Haematol

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Background and Aims: The study aimed to determine the proportion of iron deficiency (ID) anemia (IDA) among vegans in northeast Thailand and to explore whether mathematical formulas derived from red blood cell (RBC) indices are applicable for IDA screening in the study population. Methods: Blood samples from 234 individuals (age 6–45 years) living in a vegan community were taken. Complete blood cell count, serum ferritin, hemoglobin profiles and DNA analysis for α-thalassemia were determined. Anemia was defined using the WHO criteria adjusted for age and sex. Serum ferritin <15 ng/ml was considered as ID. A number of mathematical formulas derived from RBC indices were applied to screen ID among anemic individuals. Results: Anemia was found in 41.5% (95% CI = 35.1–48.1%) of the study participants. The overall proportion of thalassemia and hemoglobinopathies was 56.4% (95% CI = 49.8–62.9%). Of the anemic participants, 45.4% had ID. Based on the receiver-operating characteristic curve analysis, 4 formulas were applicable for predicting ID among anemic individuals (highest sensitivity of 86.4%). Conclusions: The proposed formulas might be used as proxy indicators for the identification of ID among anemic children and adult vegans if more sophisticated laboratory determinations are not available due to limited financial resources.

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Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand

Cited by 69 publications

References 15 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

Burden of Anemia in Relation to Thalassemia and Iron Deficiency among Vietnamese Pregnant Women

Proxy Indicators for Identifying Iron Deficiency among Anemic Vegetarians in an Area Prevalent for Thalassemia and Hemoglobinopathies

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