Background: Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems. Thailand's thalassemia prevention and control program has successfully utilized prenatal screening and diagnosis to reduce the incidence of severe thalassemia in Thai populations, but migrant populations are excluded despite having high thalassemia prevalence. We sought to identify key barriers to and facilitators of thalassemia screening and to develop tailored recommendations for providing migrants with access to thalassemia prevention and control.
Methods: We conducted 28 in-depth interviews and 4 focus group discussions (FGDs) in Chonburi, Thailand with Myanmar and Cambodian migrants, Thai healthcare providers, Thai parents of children affected by thalassemia, and migrant agents.
Results: Participant narratives revealed that migrants' lack of knowledge about the prevalence, manifestations, severity, and inherited nature of thalassemia led to misconceptions, fear, or indifference toward thalassemia and screening. Negative perceptions of pregnancy termination were based in religious beliefs but compounded by other sociocultural factors, presenting a key obstacle to migrant uptake of prenatal screening. Additionally, structural barriers included legal status, competing work demands, lack of health insurance, and language barriers. Participants recommended delivering public thalassemia education in migrants' native languages, implementing carrier screening, and offering thalassemia screening in convenient settings.
Conclusions: An effective thalassemia prevention and control program should offer migrants targeted thalassemia education and outreach, universal coverage for thalassemia screening and prenatal care, and options for carrier screening, providing a comprehensive strategy for reducing the incidence of severe thalassemia in Thailand and establishing an inclusive model for regional thalassemia prevention and control.
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http://dx.doi.org/10.1186/s12889-021-11831-4 | DOI Listing |
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Central Laboratory, Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, Guilin 541199, Guangxi Zhuang Autonomous Region, China.
Objective: To explore the genotypes and frequency distribution of thalassemia in Lingui District, Guilin City, and provide reference for the prevention and control of thalassemia in this area.
Methods: The results of genetic testing for thalassemia in 1 501 suspected cases at the Second Affiliated Hospital of Guilin Medical University were analyzed retrospectively. The deletional mutations of α-thalassemia were detected by gap-PCR, the non-deletional mutations of α-thalassemia and β-thalassemia mutations were detected by PCR-reverse dot blot (PCR-RDB).
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.
Objective: To analyze the application value of MCV, MCH and HbA in screening for thalassemia in the population of childbearing age in Quanzhou area, and to determine the optimal screening cut-off value of relevant indicators in this area.
Methods: 2 725 couples of childbearing age were included in the study and underwent routine blood test, capillary hemoglobin electrophoresis, and α and β thalassemia gene test. Statistical methods were used to analyze the distribution of thalassemia genotypes, and compare the performance of MCV, MCH, and HbA in screening various types of thalassemia.
Ann Hematol
December 2024
Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian Province, China.
Introduction: β-thalassemia is a common genetic disease mainly caused by point mutations in the β-globin gene, eliciting a high prevalence in South China. The aim of the present study is to identify a rare HBB: c.316-90 A > G variant and provide the clinical and hematological features in two unrelated Chinese families.
View Article and Find Full Text PDFAdv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFIran Biomed J
December 2024
Nursing student, School of Nursing and Midwifery, Student Research Committee, Tehran University of Medical Science, Tehran, Iran.
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