112例重度β -地中海贫血患儿的临床处理及维生素矿物质缺乏

Ö. Terzi
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By exploring these deficiencies, we aim to contribute to the broader understanding of the physiological implications of thalassemia major on growing individuals, shedding light on aspects that could impact their overall health and well-being.\nMaterial Methods: The current study constitutes a retrospective analysis of a meticulously curated dataset comprising 112 pediatric patients diagnosed with thalassemia major. The patients were drawn from diverse backgrounds and were subjected to rigorous assessment and evaluation. Comprehensive medical records, encompassing demographic information, clinical history, and laboratory findings, were meticulously reviewed.\nResults: The patients had a mean age of 8.14±12 years; among them, 59 (52.7%) were girls. The median hemoglobin and ferritin levels were 8.5 g/dL (range 6.5-10.6) and 2497 ml/ng (range 170-7417), respectively. The frequency of erythrocyte suspension (ES) transfusion in the patients was 1:2.7 weeks. 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摘要

目的:地中海贫血是一种常染色体隐性遗传疾病,在世界范围内是一个重要的医疗问题。这种疾病的特点是血红蛋白合成不足,导致慢性贫血,需要定期输血。本研究试图深入研究患有地中海贫血的儿科患者的领域,特别关注调查潜在的维生素和矿物质缺乏。通过探索这些缺陷,我们的目标是有助于更广泛地了解地中海贫血对成长中的个体的生理影响,揭示可能影响他们整体健康和福祉的方面。材料方法:目前的研究对一个精心整理的数据集进行了回顾性分析,该数据集包括112名诊断为重度地中海贫血的儿科患者。这些患者来自不同的背景,并接受严格的评估和评价。全面的医疗记录,包括人口统计信息、临床病史和实验室结果,被仔细地审查。结果:患者平均年龄8.14±12岁;其中女生59例(52.7%)。血红蛋白和铁蛋白水平的中位数分别为8.5 g/dL(范围6.5-10.6)和2497 ml/ng(范围170-7417)。患者输注红细胞悬液(ES)的频率为1∶2.7周。维生素B12的平均血清水平为423.7 pg/mL(范围为166-755),叶酸为6.6 ng/mL(范围为1.55-16.4),锌为79.4 mg/dL(范围为51-167),铜为111.07 mg/dL(范围为67-190)。其中7例(6.25%)缺乏维生素B12, 35例(31.25%)缺乏叶酸,27例(24.1%)缺乏锌,10例(8.9%)缺乏铜。结论:对儿童地中海贫血的探索揭示了叶酸和锌缺乏在儿童地中海贫血中的重要作用。由于发现这些缺陷十分突出,因此呼吁采取有重点的干预措施,以解决潜在的健康影响。在地中海贫血的复杂结构中,对叶酸和锌缺乏的关注突出了积极的医疗保健策略的途径。通过针对这些缺陷,我们有可能改善患有重度地中海贫血的年轻患者的福祉和未来前景。
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Clinical Management and Vitamin-Mineral Deficiencies in Children with Beta-Thalassemia Major: A Study on 112 Cases
Objective: Thalassemia major, an autosomal recessive genetic disorder, represents a significant healthcare concern worldwide. The hallmark of this condition is the deficiency in hemoglobin synthesis, resulting in chronic anemia and necessitating regular blood transfusions. This study endeavors to delve into the realm of pediatric patients afflicted by thalassemia major, with a particular focus on investigating potential vitamin and mineral deficiencies. By exploring these deficiencies, we aim to contribute to the broader understanding of the physiological implications of thalassemia major on growing individuals, shedding light on aspects that could impact their overall health and well-being. Material Methods: The current study constitutes a retrospective analysis of a meticulously curated dataset comprising 112 pediatric patients diagnosed with thalassemia major. The patients were drawn from diverse backgrounds and were subjected to rigorous assessment and evaluation. Comprehensive medical records, encompassing demographic information, clinical history, and laboratory findings, were meticulously reviewed. Results: The patients had a mean age of 8.14±12 years; among them, 59 (52.7%) were girls. The median hemoglobin and ferritin levels were 8.5 g/dL (range 6.5-10.6) and 2497 ml/ng (range 170-7417), respectively. The frequency of erythrocyte suspension (ES) transfusion in the patients was 1:2.7 weeks. The mean serum levels were 423.7 pg/mL (range 166-755) for vitamin B12, 6.6 ng/mL (range 1.55-16.4) for folic acid, 79.4 mg/dL (range 51-167) for zinc, and 111.07 mg/dL (range 67-190) for copper. Among the patients, 7 (6.25%) had a vitamin B12 deficiency, 35 (31.25%) had a folic acid deficiency, 27 (24.1%) had a zinc deficiency, and 10 (8.9%) had a copper deficiency. Conclusion: The exploration into pediatric thalassemia major unveils a landscape where folic acid and zinc deficiencies play a significant role. The detected prominence of these deficiencies prompts a call for focused interventions to address the potential health implications. Amid the intricate fabric of thalassemia major, the spotlight on folic acid and zinc deficiencies highlights an avenue for proactive healthcare strategies. By targeting these deficiencies, we hold the potential to improve the well-being and future prospects of young patients grappling with thalassemia major.
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