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BACKGROUND: Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. CASE REPORT: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin. CONCLUSION: In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.
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INTRODUCTION: ß-Thalassemia, a genetic condition which influences both the physical and emotional facets of individuals specially females while also exerting substantial financial strain on families and healthcare systems. Recognizing the pivotal influence of social support, particularly on mental well-being, this study endeavors to delve into the shared psychosocial challenges experienced by females grappling with ß-thalassemia major. METHODS: Employing a qualitative-descriptive methodology and purposive sampling, this study conducted in-depth interviews with forty-two young girls, 18.64 ± 4.27, diagnosed with ß-thalassemia major and representing diverse academic backgrounds, using a semi-structured in-depth interview guide. NVIVO-12 software facilitated extended data analysis, encompassing coding, categorization, theme development, and mind-mapping techniques to unravel nuanced insights from the collected data. FINDINGS: This groundbreaking study delves into the psychosocial factors that impact the well-being of female ß-thalassemia patients. The research highlights the key factors that positively contribute to their quality of life by conducting thorough inductive content analysis. These include receiving an education, having robust family support, experiencing overall life satisfaction, and making meaningful societal contributions. The findings of this study can be used to improve the lives of female ß-thalassemia patients and enhance their overall well-being. Contrariwise, notable impediments encompassed depression, social isolation, limited access to insurance services, challenges in educational and employment spheres, as well as difficulties in nurturing social relationships. These findings underscore the multifaceted influences shaping the quality of life for girls navigating ß-thalassemia, shedding light on empowering and challenging elements within their experiences. CONCLUSION: In conclusion, psychosocial factors supporting or hindering the well-being of young girls with ß-thalassemia major in Pakistan include an inductive environment at homes, organizations, education, institutions with adequate knowledge of thalassemia disease among patients, and society. More research is needed to understand their needs and advocate for societal support and acceptance. Family and friends support are crucial for improving their quality of life, necessitating focused efforts to provide understanding and aid within the community.
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OBJECTIVE: We aim to document the frequency of HAAA cases among AA patients presenting at a tertiary care hospital, and to determine the most common agents (viral/drug induced) and Clinico-haematological features among HAAA patients at a tertiary care hospital. Methods: This study was a retrospective review, conducted at a tertiary care hospital in Karachi, Pakistan. RESULTS: A total of 21 patients were included in the study. Hepatitis among the HAAA patients was viral in 17 cases, while 4 were idiopathic. All the patients acquired aplastic anaemia within 3-12 months of the Hepatitis episode and most presented with bleeding, bruises and petechiae. CONCLUSIONS: This study indicates and proves that presence and prevalence of this disease in the Pakistani population is quite significant. Unlike the rest of the world, HAAA in Pakistan is not entirely of unknown aetiology, most of the cases can be associated with one of the Hepatitis viruses.
