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 systemepolymerase chain reaction (ARMSePCR). Twenty-one major mutations were investigated using allele-specific primers grouped into six different panels. Results: The most common mutations found (23%) were IVS 1e5 (G-C) and Cd 26 (G-A) (HbE), followed by 619 deletion, Cd 8/9 (þG), Cd 16 (eC), Cd 41/42 (eTTCT), IVS 1e1 (GeT), 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.
Bin Alwi, Zilfalil; Lama, Raju; Yusof, Wardah; Shrestha, Tilak R.; Hanafi, Sarifah; Bhattarai, Matrika; Hassan, Rosline; and Zilfalil, Bin Alwi
"Prevalence and Distribution of Major -Thalassemia Mutations and HbE/-Thalassemia Variant in Nepalese Ethnic Groups,"
Hematology/Oncology and Stem Cell Therapy: Vol. 15:
1, Article 3.
Available at: https://www.hosct.org/hematology-oncology-and-stem-cell-therapy/vol15/iss1/3