Genotype-Phenotype Correlation of ß-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling.
Hemoglobin
; 44(3): 184-189, 2020 May.
Article
em En
| MEDLINE
| ID: mdl-32586164
ABSTRACT
Effective prevention of ß-thalassemia (ß-thal) requires strategies to detect at-risk couples. This is the first study attempting to assess the prevalence of silent ß-thal carriers in the Malaysian population. Hematological and clinical parameters were evaluated in healthy blood donors and patients with ß-thal trait, Hb E (HBB c.79G>A)/ß-thal and ß-thal major (ß-TM). ß-Globin gene sequencing was carried out for 52 healthy blood donors, 48 patients with Hb E/ß-thal, 34 patients with ß-TM and 38 patients with ß-thal trait. The prevalence of silent ß-thal carrier phenotypes found in 25.0% of healthy Malaysian blood donors indicates the need for clinician's awareness of this type in evaluating ß-thal in Malaysia. Patients with ß-TM present at a significantly younger age at initial diagnosis and require more blood transfusions compared to those with Hb E/ß-thal. The time at which genomic DNA was extracted after blood collection, particularly from patients with ß-TM and Hb E/ß-thal, was found to be an important determinant of the quality of the results of the ß-globin sequencing. Public education and communication campaigns are recommended as apparently healthy individuals have few or no symptoms and normal or borderline hematological parameters. ß-Globin gene mutation characterization and screening for silent ß-thal carriers in regions prevalent with ß-thal are recommended to develop more effective genetic counseling and management of ß-thal.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Talassemia beta
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Globinas beta
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Estudos de Associação Genética
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Aconselhamento Genético
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Genótipo
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Mutação
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article