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

Chaibunruang, Attawut; Sornkayasit, Kanda; Chewasateanchai, Mattanee; Sanugul, Peerayoot; Fucharoen, Goonnapa; Fucharoen, Supan

doi:10.4084/mjhid.2018.054

Cited by 19 publications

(10 citation statements)

References 17 publications

(23 reference statements)

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“…Bhd, Selangor Darul Ehsan, Malaysia). Identification of α 0 -thalassemia (SEA and THAI deletions), α + -thalassemia (3.7 kb and 4.2 kb deletions), Hb Constant Spring, Hb Paksé, α -globin gene triplication and common β -thalassemia mutations were performed using polymerase chain reaction (PCR)-based techniques ( Yamsri et al, 2010 ; Singha et al, 2013 ; Chaibunruang et al, 2018 ; Charoenwijitkul et al, 2019 ). Identification of the Filipino deletion and the 105 bp deletion β -thalassemia were performed using gap-PCR assays as described previously ( Nopparatana et al, 1999 ; Yamsri et al, 2012 ).…”

Section: Methodsmentioning

confidence: 99%

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Soontornpanawet

Singha

Srivorakun

et al. 2023

PeerJ

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Background β0-thalassemia deletion removing 5´β-globin promoter usually presents phenotype with high hemoglobin (Hb) A2 and Hb F levels. We report the molecular characteristics and phenotype-genotype correlation in a large cohort of the β0-thalassemia with 3.4 kb deletion. Methods A total of 148 subjects, including 127 heterozygotes, 20 Hb E-β-thalassemia patients, and a double heterozygote with α-globin gene triplication, were recruited. Hb and DNA analysis were performed to identify thalassemia mutations and four high Hb F single nucleotide polymorphisms (SNPs) including four base pair deletion (-AGCA) at Aγ-globin promoter, rs5006884 on OR51B6 gene, −158 Gγ-XmnI, BCL11A binding motifs (TGGTCA) between 3´Aγ-globin gene and 5´δ-globin gene. Results It was found that heterozygous β0-thalassemia and Hb E-β0-thalassemia with 3.4 kb deletion had significantly higher Hb, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin and Hb F values as compared with those with other mutations. Co-inheritance of heterozygous β0-thalassemia with 3.4 kb deletion and α-thalassemia was associated with even higher MCV and MCH values. The Hb E-β0-thalassemia patients carried a non-transfusion-dependent thalassemia phenotype with an average Hb of around 10 g/dL without blood transfusion. A hitherto undescribed double heterozygous β0-thalassemia with 3.4 kb deletion and α-globin gene triplication presented as a plain β-thalassemia trait. Most of the subjects had wild-type sequences for the four high Hb F SNPs examined. No significant difference in Hb F was observed between those of subjects with and without these SNPs. Removal of the 5´β-globin promoter may likely be responsible for this unusual phenotype. Conclusions The results indicate that β0-thalassemia with 3.4 kb deletion is a mild β-thalassemia allele. This information should be provided at genetic counseling and prenatal thalassemia diagnosis.

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Section: Methodsmentioning

confidence: 99%

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Soontornpanawet

Singha

Srivorakun

et al. 2023

PeerJ

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“…For instance, the prevalence of the Hb E trait among the hill tribe (2.5%) was lower than that among the Thai population. According to a study in northeastern Thailand, the most prevalent type of thalassemia is the Hb E trait (39.1%) [22]. Additionally, a study among people who did not present anemia or microcytosis in central Thailand did not detect the α-thalassemia 1 trait, but there was a 15.8% prevalence of the Hb E trait and a 0.6% prevalence of the β-thalassemia trait [23].…”

Section: Plos Onementioning

confidence: 99%

Epidemiology of thalassemia among the hill tribe population in Thailand

et al. 2021

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Background Thalassemia is a severe disease that occurs due to abnormalities in hemoglobin genes. Various genetic factors in different populations lead to different clinical manifestations of thalassemia disease, particularly among people who have a long history of migration and who have married among tribes, such as the hill tribe people in Thailand. This genetic epidemiological study aimed to estimate the prevalence of various forms of thalassemia among the six main hill tribe populations in Thailand. Methods A cross-sectional study was conducted to obtain information and blood specimens from school children belonging to one of the six main hill tribes in Thailand: Akha, Lau, Hmong, Yao, Karen, and Lisu. Hill tribe children who were attending grades 4–6 in 13 selected schools in Chiang Rai Province, Thailand, were invited to participate in the study. A validated questionnaire and 3 mL blood specimens were collected after obtaining information consent forms from both the children and their parents on a voluntary basis. A complete blood count (CBC) was performed, followed by osmotic fragility (OF) and dichlorophenol indophenol precipitation (DCIP) tests to screen for thalassemia. High-performance liquid chromatography (HPLC) and real-time quantitative polymerase chain reaction (qPCR) were used to identify hemoglobin type and α-thalassemia, respectively. A t-test, chi-square and logistic regression were used to detect the associations between variables at the significance level of α = 0.05. Results A total of 1,200 participants from 6 different tribes were recruited for the study; 50.0% were males, and 67.3% were aged 11–12 years. The overall prevalence of thalassemia carriers according to the screening tests was 9.8% (117 of 1,200). Among the cases, 83 were A2A (59 cases were α-thalassemia 1 carrier or α-thalassemia 2 carrier or homozygous α-thalassemia 2, and 24 cases were β-thalassemia trait with or without α-thalassemia); 1 case was EE (homozygous Hb E with or without α-thalassemia); 31 cases were EA (30 cases were the Hb E trait, and 1 case was Hb E trait with or without α-thalassemia); 1 case was A2A Bart’s H (Hb H disease α-thalassemia 1/α-thalassemia 2); and 1 case was A2A with abnormal Hb. The prevalence of the α-thalassemia 1 trait among the hill tribe population was 2.5%. The greatest prevalence of the α-thalassemia 1 trait was found in the Karen (3.0%) and Hmong (3.0%) tribes. Conclusions The prevalence of some forms of thalassemia in the hill tribe population is higher than that in the Thai and other populations. Effective and available thalassemia screening tests, including essential information to protect the next generation through the specific counseling clinic, are crucial, particularly due to increasing marriages within these populations.

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“…Children born with β-thalassemia may show symptoms of anemia and other complications throughout their lives ( 5 ). Thailand has a high (30-50%) prevalence of α- and β-thalassemia ( 6 ), particularly in the northern and northeastern regions of the country ( 7 ). As thalassemia treatments are costly and time-consuming, the most effective means of limiting thalassemia incidence is to screen for the mutant genes before birth.…”

Section: Introductionmentioning

confidence: 99%

Droplet‑based digital PCR for non‑invasive prenatal genetic diagnosis of α and β‑thalassemia

Sawakwongpra

Tangmansakulchai²,

Ngonsawan³

et al. 2021

Biomed Rep

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Non-invasive prenatal diagnosis (NIPD) of isolated cell-free DNA from maternal plasma has been applied to detect monogenic diseases in the fetus. Droplet digital PCR (ddPCR) is a sensitive and quantitative technique for NIPD. In the present study, the development and evaluation of ddPCR-based assays for common α and β-thalassemia variants amongst the Asian population was described; specifically, Southeast Asian (SEA) deletion, HbE, and 41/42 (-CTTT). SEA is caused by deletion of a 20 kb region surrounding the α-globin gene, whilst HbE and 41/42 (-CTTT) are caused by point mutations on the β-globin gene. Cell-free DNA samples from 46 singleton pregnant women who were carriers of these mutations were isolated and quantified using ddPCR with specially designed probes for each target allele. Allelic copy number calculation and likelihood ratio tests were used to classify fetal genotypes. Classification performances were evaluated against ground truth fetal genotypes obtained from conventional amniocentesis. Copy number variation analysis of SEA deletion accurately classified fetal genotypes in 20 out of 22 cases with an area under the receiver operating characteristic curve of 0.98 for detecting Hb Bart's hydrops fetalis. For HbE cases, 10 out of 16 samples were correctly classified, and three were inconclusive. For 41/42 (-CTTT) cases, 2 out of 8 were correctly classified, and four were inconclusive. The correct genotype was not rejected in any inconclusive case and may be resolved with additional ddPCR experiments. These results indicate that ddPCR-based analysis of maternal plasma can become an accurate and effective NIPD for SEA deletion α-(0) thalassemia. Although the performance of ddPCR on HbE and 41/42 (-CTTT) mutations were not sufficient for clinical application, these results may serve as a foundation for future works in this field.

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

Cited by 19 publications

References 17 publications

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Epidemiology of thalassemia among the hill tribe population in Thailand

Droplet‑based digital PCR for non‑invasive prenatal genetic diagnosis of α and β‑thalassemia

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

Cited by 19 publications

References 17 publications

Molecular basis of a high Hb A2/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Molecular basis of a high Hb A2/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Epidemiology of thalassemia among the hill tribe population in Thailand

Droplet‑based digital PCR for non‑invasive prenatal genetic diagnosis of α and β‑thalassemia

Contact Info

Product

Resources

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Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication

Molecular basis of a high Hb A₂/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction withα-globin gene triplication