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Thalassemia major is a genetic disorder and blood transfusion is critical for survival in these patients. Over the course of the past three decades, hyper transfusion therapy in these patients has shown has dramatically extended life expectancy and improved quality of life. Unfortunately, this type of therapy also increased the incidence of complications due to iron overload. The aim of this study was to assess bone mineral density (BMD) in patients with β-thalassemia major and to determine their biochemical and hormonal profiles that may affect BMD. A cross- sectional study was carried out in Sanjay Gandhi – PGIMS, a tertiary care hospital over period of 3 years on all β-thalassemia major patients above 7 years receiving regular transfusion. Patients with transfusion dependent anaemia other than β thalassemia major were excluded. Physical examination, laboratory tests and bone density measurements were performed. Then, the data were analyzed. The total number of children over 7 years of age with β-thalassemia major receiving regular blood transfusions during the study period was 150. Mean hemoglobin was 7.8±0.6g/dL and the mean serum ferritin level 5295±2736 ng/mL. Short stature was seen in 54.7% boys and 28.7% of girls. Prevalence of lumbar osteoporosis and osteopenia were 42.5% and 37.5%. Femoral osteoporosis and osteopenia were present in 32.5% and 55% of the patients. Impaired puberty, hypothyroidism, diabetes mellitus, hypoparathyroidism were observed in 26%, 18%, 7%, and 15%, of patients, respectively. Nearly 75% of patients had low bone mineral density. Bone mineral density was significantly associated with short stature (P=0.002), hypogonadism (P=0.006), hypoparathyroidism (P=0.038), hypothyroidism (P=0.044) and vitamin D deficiency (P<0.001). High prevalence of complications among our thalassemics signifies the importance of more detailed studies along with therapeutic interventions. 重型地中海贫血是一种遗传疾病对于与这些患者以输血的方式来保证他们的生存质量是至关重要的。在过去的三十年中高输血量疗法的运用极大地延长了病人的寿命并且大幅提高了他们的生活质量。不幸的是这种疗法由于铁元素过量增加了其他并发症的发生率。 本研究的目标是评估β-重型地中海贫血患者的骨骼矿物质密度BMD并且确定患者的生理化学和荷尔蒙状况是否会对骨骼矿物质密度BMD造成影响。 Sanjay Gandhi-PGIMS,一家三级保健医院针对所有七岁以上接受定期输血治疗的β-重型地中海贫血患者作出了这项长达三年的跨部门的研究。依赖输血治疗的贫血患者而非β-重型地中海贫血患者被排除。我们对患者进行了体格检查实验室测试和骨密度测试并对研究数据进行了分析。 在这项研究中七岁以上接受定期输血治疗的β-重型地中海贫血患儿总数是150人。其平均血红蛋白值为7.8±0.6/dL, 平均血清铁蛋白水平为5295±2736ng/mL。54.7%的男孩和28.7%的女孩身材矮小。患者中腰椎骨质疏松和骨质缺乏患病率分别为42.5%和37.5%股骨骨质疏松和骨质缺乏患病率分别为32.5%和55%据观察青春期受损甲状腺功能减退糖尿病甲状旁腺功能减退的发生率分别为26%18%7%和15%。近75%的患者有低骨骼矿物质密度的症状。骨骼矿物质密度与以下因素有显著的相关性身材矮小P=0.002性腺机能减退P=0.006甲状旁腺功能减退P=0.038甲状腺功能减退P=0.044维生素D缺乏P<0.001。地中海贫血广泛的并发症指出了对其进行更详细研究以及相应干预治疗措施非凡的意义。</p

thalassemia reports

Low Bone Mineral Density in Thalassemia Major: Sanjay Gandhi Post Graduate Institute Experience and a Brief Focus on Underlying Factors behind the Cause