Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center

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

doi:10.1002/pd.2514

Cited by 92 publications

(84 citation statements)

References 23 publications

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“…Hemoglobin (Hb) E-β-thalassemia is the most common form of thalassemia found in Northeast Thailand [1,2]. The phenotypic expression of this disease can vary from mild thalassemia intermedia to severe transfusion-dependent thalassemia, and β-thalassemia mutation type has been found to be the primary factor determining disease severity [3,4].…”

Section: Introductionmentioning

confidence: 99%

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand

et al. 2016

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Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/^Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined. Five β⁰-thalassemia mutations and a severe β⁺-thalassemia mutation in trans to the β^E gene were identified. No significant difference in hematological parameters was observed among β-thalassemia genotypes. Coinheritance of α-thalassemia was observed in 31 of the 73 subjects (42.5%). Four SNPs including ^Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects. The molecular basis of NTDT in the remaining 3 (4.1%) cases could not be defined. These results indicate multiple genetic factors in NTDT patients and underline the importance of complete genotyping to provide proper management, make clinical predictions, and improve genetic counseling.

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Section: Introductionmentioning

confidence: 99%

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand

et al. 2016

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“…Hb analyses demonstrated a major peak of Hb Tak (91.9 %) and increased Hb A 2 (5.4%) but no Hb A. Screening for β-thalassemia mutations commonly found in our region [16,17] yielded a negative result. DNA analysis by allele-specific PCR revealed homozygosity for the Hb Tak mutation and a coinheritance of the 3.7-kb deletional α + -thalassemia determinant.…”

Section: Resultsmentioning

confidence: 99%

Secondary Erythrocytosis Caused by Hemoglobin Tak/(δβ)⁰-Thalassemia Syndrome

Prakobkaew

Singsanan²,

Fucharoen³

et al. 2010

Acta Haematol

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Secondary erythrocytosis may arise from several causes, but an association with oxygen transport is rare. We describe for the first time a form of secondary erythrocytosis caused by compound heterozygosity for hemoglobin (Hb) Tak and (δβ)⁰-thalassemia found in an adult Thai individual. The patient had marked erythrocytosis and microcytosis with increased Hb and hematocrit values. Hb analyses using the Hb Gold Analyzer showed Hb A₂ (72.5%) and Hb F (30.0%) without Hb A while the capillary electrophoresis revealed 2.3% Hb A₂ and a major peak of Hb F (91.2%). Further molecular investigation identified that he was in fact a compound heterozygote for Hb Tak and deletional (δβ)⁰-thalassemia. Hematological parameters of the patient were compared with those observed for a Thai boy who demonstrated features of erythrocytosis and microcytosis caused by homozygous Hb Tak with α⁺-thalassemia and with those of pure carriers of Hb Tak and (δβ)⁰-thalassemia in our series. This report confirms the importance of both Hb and molecular investigations for the assessment of genotype/phenotype correlation and the appropriate management of the patients.

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“…However, cordocentesis is still a relevant practice at our center especially for late pregnancies or when the parents' mutations are not known. At our center, a previous study has demonstrated that approximately 22.2% of prenatal diagnosis was done by cordocentesis [12]. The fetal blood specimens obtained with this practice gave us the chance to examine the fetal RBC parameters associated with various thalassemia syndromes thanks to the availability of an automated blood cell counter which can utilize a small volume of blood for analysis.…”

Section: Discussionmentioning

confidence: 99%

Fetal Red Blood Cell Parameters in Thalassemia and Hemoglobinopathies

Karnpean

Fucharoen

et al. 2013

Fetal Diagn Ther

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Introduction: With the lack of fetal blood specimens in routine practice, little is known about red blood cell (RBC) parameters of fetuses with various thalassemia syndromes. This study aimed to describe these in various forms of thalassemia. Materials and Methods: The study was performed on 93 fetal blood specimens obtained from pregnant women by cordocentesis during 18-24 weeks of gestation. RBC parameters were recorded on automated analyzer. Hemoglobin (Hb) and DNA analyses were performed for definite genotyping. Results: No significant difference in RBC parameters was observed between non-thalassemic fetuses and those with β-thalassemia trait, Hb E trait, homozygous Hb E and β-thalassemia/Hb E disease. However, in those with α⁰-thalassemia trait and double heterozygous α⁰-thalassemia/Hb E, slight reduction in mean corpuscular volume (MCV) was noted. Fetuses with the Hb H disease showed significant reductions in Hb, MCV and mean corpuscular Hb (MCH). Marked reductions in Hb, hematocrit, MCH and mean cell Hb concentration and increased RBC distribution width with numerous nucleated RBC were clearly observed in Hb Bart's hydrops fetalis. Conclusion: Simple analysis of fetal RBC parameters is useful for making presumptive prenatal diagnosis of α-thalassemia syndromes including Hb H disease and Hb Bart's hydrops fetalis which can then be confirmed by Hb and DNA analyses.

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Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center

Abstract: Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in northeast Thailand and a large number of severe thalassemia diseases have been prevented during the past 16 years of operation.

Cited by 92 publications

References 23 publications

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand

Secondary Erythrocytosis Caused by Hemoglobin Tak/(δβ)⁰-Thalassemia Syndrome

Fetal Red Blood Cell Parameters in Thalassemia and Hemoglobinopathies

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Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center

Abstract: Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in northeast Thailand and a large number of severe thalassemia diseases have been prevented during the past 16 years of operation.

Cited by 92 publications

References 23 publications

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand

Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand

Secondary Erythrocytosis Caused by Hemoglobin Tak/(δβ)&#8304;-Thalassemia Syndrome

Fetal Red Blood Cell Parameters in Thalassemia and Hemoglobinopathies

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Secondary Erythrocytosis Caused by Hemoglobin Tak/(δβ)⁰-Thalassemia Syndrome