β‐Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program
| Autor: | Hataichanok Srivorakun, Goonnapa Fucharoen, Supawadee Yamsri, Kritsada Singha, Bounpalisone Souvanlasy, Attawut Chaibunruang, Supan Fucharoen |
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| Rok vydání: | 2020 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Genetic counseling Thalassemia DNA Mutational Analysis Clinical Biochemistry Population Prenatal diagnosis beta-Globins 030204 cardiovascular system & hematology Biology Hemoglobins 03 medical and health sciences 0302 clinical medicine alpha-Globins Start codon hemic and lymphatic diseases medicine Humans education Genotyping Genetics education.field_of_study Hemoglobin E beta-Thalassemia Biochemistry (medical) Hematology General Medicine Molecular diagnostics medicine.disease Laos Mutation Mutation testing Female 030215 immunology |
| Zdroj: | International Journal of Laboratory Hematology. 43:500-505 |
| ISSN: | 1751-553X 1751-5521 |
| Popis: | Introduction A high frequency of β-thalassemia in Lao People's Democratic Republic necessitates the importance of complete molecular data before a prevention and control program could be established. Limited data are available for Lao PDR. We have now reported an extended information on the molecular basis of β-hemoglobinopathies in this population. Methods The study was done on 519 unrelated Laos subjects requested for thalassemia investigation. Hematological data were recorded. Hb profiles were obtained using a capillary electrophoresis system. α-And β-globin genotyping was performed using PCR and related techniques. Results Among the 519 subjects, 287 (55.3%) were found to carry β-hemoglobinopathies based on Hb and DNA analyses. These included Hb E carriers (n = 135), homozygous Hb E (n = 47), β-thalassemia carriers (n = 70), Hb E-β-thalassemia (n = 25), homozygous β-thalassemia (n = 4), heterozygous δβ0 -thalassemia (n = 2), and carriers of the β-Hb variant (n = 3). Mutation analysis identified in addition to the Hb E, 8 different β-thalassemia mutations including codon 17 (A-T), codons 41/42 (-TTCT), NT-28 (A-G), codons 71/72 (+A), IVS1-1 (G-T), 3.4 kb deletion, an initiation codon (T-G) and IVS2-654 (C-T). Two δβ0 -thalassemia carriers (12.6 kb deletion) and three subjects with Hb Hope (β136GGT-GAT ) were identified. Hematological features associated with these β-hemoglobinopathies were presented. Conclusion β-hemoglobinopathies in the Laos population is heterogeneous. This information is relevant for setting up a molecular diagnostics and can provide a basis for genetic counseling and enable prenatal diagnosis. |
| Databáze: | OpenAIRE |
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