Thalassemia and hemoglobinopathies rather than iron deficiency are major causes of pregnancy-related anemia in northeast Thailand

Sanchaisuriya, Kanokwan; Fucharoen, Supan; Ratanasiri, Thawalwong; Sanchaisuriya, Pattara; Fucharoen, Goonnapa; Dietz, Ekkahart; Schelp, Frank Peter

doi:10.1016/j.bcmd.2006.04.006

Cited by 40 publications

(51 citation statements)

References 15 publications

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“…However, such cases appear to be rare. Based on our data collected independently from several communities Sanchaisuriya et al 2006;Savongsy et al 2008;Panomai et al 2010;Tritipsombut et al 2012;Wongprachum et al 2016), only 0.09% (2/2329) of individuals with normal MCV had elevated Hb A 2 . Nonetheless, our study provides evidence supporting the remarkably high Hb CS in ethnic minority groups in Central Vietnam.…”

Section: Discussionmentioning

confidence: 94%

“…Other α-thalassemic Hb variants commonly found in this region include hemoglobin Constant Spring (Hb CS) and hemoglobin Paksé (Hb Ps). The prevalence of these two forms has been well established in northeast Thailand and in Vientiane, the capital city of Laos, with a prevalence of approximately 5-10% for Hb CS, and approximately 1-2% for Hb Ps Sanchaisuriya et al 2006;Savongsy et al 2008;Panomai et al 2010;Tritipsombut et al 2012). Interactions of these thalassemia genes could result in many complex thalassemia syndromes with varying severities.…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

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%

“…[7][8][9] The high false positive rate is due to other non-targeted abnormalities (eg. a þ -thalassaemia or other hypochromic microcytic anaemia, especially iron deficiency anaemia, which is common in the regions 10 ), and leads to unnecessary operating costs for further Hb and DNA analyses.…”

Section: Introductionmentioning

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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“…It has also been suggested that the HFE mutation may contribute to some cases of unexplained iron overload in thalassemia patients [11]. In Thailand where thalassemia and hemoglobinopathies are prevalent [12, 13] limited data on HFE mutations and their effect on iron loading in thalassemia are available. Therefore, in this study we aimed to determine the prevalence of the HFE mutations (H63D and IVS5#1G→A) in the Thai population and study the correlation with iron status as measured by serum ferritin in various Thai thalassemia carriers and Hb E/β-thalassemia disease.…”

Section: Introductionmentioning

confidence: 99%

H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

et al. 2007

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We determined the prevalence of the H63D and the IVS5#1G-A HFE mutations in 370 (169 males and 201 females) Thai thalassemia carriers and 201 normal subjects. While no IVS5#1G-A mutation was found, the H63D heterozygosity was identified in 5.5% (11/201) of normal subjects and 7.3% (27/370) of thalassemia carriers. Within the thalassemic group, the medians (ranges) of serum ferritin were 217.5 ng/ml (20.1–424.3) and 169.8 ng/ml (3.9–3,536.0) in male subjects and 30.4 ng/ml (11.9–130.7) and 49.3 ng/ml (0.6–931.0) in female subjects with (HD) and without (HH) H63D mutation, respectively. The proportions of subjects with elevated ferritin were found to be 37.5% (6/16) for HD and 14.0% (18/129) for HH in male and 0% (0/11) for HD and 3.0% (5/164) for HH in female subjects, respectively. Statistical analysis of all the data revealed no significant difference. Among 14 Hb E/β-thalassemia patients, no difference in hematological data as well as serum ferritin levels was observed between those with (HD) and without (HH) H63D mutation. Therefore, the H63D heterozygosity has no significant effect on the serum ferritin level and screening for this HFE mutation in thalassemic patients is not recommended.

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Thalassemia and hemoglobinopathies rather than iron deficiency are major causes of pregnancy-related anemia in northeast Thailand

Cited by 40 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

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

H63D Mutation of the Hemochromatosis Gene and Serum Ferritin Levels in Thai Thalassemia Carriers

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