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  1. Lama R, Yusof W, Shrestha TR, Hanafi S, Bhattarai M, Hassan R, et al.
    Hematol Oncol Stem Cell Ther, 2022 Mar 01;15(1):279-284.
    PMID: 33592169 DOI: 10.1016/j.hemonc.2021.01.004
    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.

  2. Tung Ong L
    Hematol Oncol Stem Cell Ther, 2024 10 04;17(3):168-175.
    PMID: 39412752 DOI: 10.4103/hemoncstem.HEMONCSTEM-D-24-00009
    Fusarium infections have increased, particularly among patients with hematological malignancies and in those receiving hematopoietic stem cell transplantation (HSCT). This meta-summary summarizes the clinical characteristics, treatment, and outcomes of Fusarium infections in HSCT recipients. The PubMed, ScienceDirect, and Ovid SP databases were searched from inception to January 2024 to identify relevant case reports. A total of 31 patients diagnosed with Fusarium infections after HSCT were included. The most common infection sites were the skin and soft tissues (74.2%), blood (54.8%), and lungs (41.9%). Fusarium species complex was identified in 67.7% of the patients, and the most common species was Fusarium solani (51.6%). Of the included patients, 58.1% received antifungal monotherapy, whereas 41.9% received antifungal combination therapy. The overall mortality rate was 74.2%. Cutaneous infection was associated with a low mortality rate. The median time to mortality was 28 days. Fusarium infections commonly present as disseminated infections in HSCT recipients.
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