Prevalence and distribution of major β-thalassemia mutations and HbE/β-thalassemia variant in Nepalese ethnic groups
| Autor: | Bin Alwi Zilfalil, Tilak R. Shrestha, Sarifah Hanafi, Matrika Bhattarai, Rosline Hassan, Wardah Yusof, Raju Lama |
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| Rok vydání: | 2021 |
| Předmět: |
Blood transfusion
Thalassemia medicine.medical_treatment DNA Mutational Analysis Ethnic group beta-Globins Disease medicine.disease_cause Nepal Ethnicity Prevalence medicine Humans Mutation business.industry beta-Thalassemia Genetic disorder Beta thalassemia Hematology General Medicine medicine.disease Oncology Immunology Hemoglobin business Cadmium |
| Zdroj: | Hematology/Oncology and Stem Cell Therapy. |
| ISSN: | 1658-3876 |
| DOI: | 10.1016/j.hemonc.2021.01.004 |
| Popis: | Background Beta-thalassemia is a genetic disorder that is inherited in an autosomal recessive pattern. This genetic disease leads to a defective beta-globin hemoglobin chain causing partial or complete beta-globin chain synthesis loss. Beta-thalassemia major patients need a continuous blood transfusion and iron chelation to maintain the normal homeostasis of red blood cells (RBCs) and other systems in the body. Patients also require treatment procedures that are costly and tedious, resulting in a serious health burden for developing nations such as Nepal. Methods A total of 61 individuals clinically diagnosed to have thalassemia were genotyped with multiplex amplification refractory mutation system–polymerase chain reaction (ARMS–PCR). Twenty-one major mutations were investigated using allele-specific primers grouped into six different panels. Results The most common mutations found (23%) were IVS 1–5 (G-C) and Cd 26 (G-A) (HbE), followed by 619 deletion, Cd 8/9 (+G), Cd 16 (–C), Cd 41/42 (–TTCT), IVS 1–1 (G–T), Cd 19 (A-G), and Cd 17 (A-T) at 20%, 12%, 8%, 6%, 4%, 3%, and 1%, respectively. Conclusion The results of this study revealed that Nepal's mutational profile is comparable to that of its neighboring countries, such as India and Myanmar. This study also showed that thalassemia could be detected across 17 Nepal's ethnic groups, especially those whose ancestors originated from India and Central Asia. |
| Databáze: | OpenAIRE |
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