Khosla Nitish, Nayyar Anisha, Selhi Arshneet Kaur, Jain Deepak, Kakkar Shruti, Selhi Harpal Singh
Dayanand Medical College and Hospital, Tagore Nagar, Civil Lines, Ludhiana, Punjab 141001 India.
MMCMSR, Sadopur, Ambala, Haryana India.
Indian J Orthop. 2024 Nov 5;59(1):69-76. doi: 10.1007/s43465-024-01225-0. eCollection 2025 Jan.
There is paucity of guidelines with inadequate data available about the extent and prevention of bone and joint disease in beta-thalassemic patients in Indian population. This study aims to determine bone and joint involvement in beta-thalassemic patients. It evaluates serum biochemical parameters of bone formation and resorption and correlates with the symptomatology in these patients. The study also determines their daily physical activity and find a correlation if any with bone mineral density.
The study was carried out on 40 regularly transfused beta thalassemic patients between 5 and 18 years of age under regular follow-up at our centre from June 2012 to June 2014. All patients were interviewed as per a well-structured proforma for symptoms relating to bone and joint disease as described by the patient/parents in past 1 year and physical activity by QAPACE questionnaire. Venous blood samples were drawn under aseptic conditions and used for estimation of biochemical parameters (calcium, phosphorus, alkaline phosphatase, vitamin D, parathyroid hormone and serum ferritin). Enrolled subjects were scanned for bone mineral density (BMD) at femur neck, trochanter and Ward's angle using dual-energy X-ray absorptiometry.
A total of 40 patients were enrolled in the study (Male:Female = 80:20). Half the patients ( = 20) had symptoms pertaining to bone and joint disease. The most common symptom was leg pain (42.50%), followed by backache (22.50%). Asymptomatic patients had greater mean serum vitamin D as compared to the symptomatic patients (22.2 vs 15.08 ng/ml) ( = 0.225). Five patients were detected to have osteopenia, all above 10 years of age. The mean BMD in symptomatic patients at femur neck, trochanter and ward's angle was 0.781, 0.639 and 0.735 g/cm, respectively, as compared to 0.754, 0.635 and 0.722 g/cm in asymptomatic patients. The difference was not statistically significant. Patients with low BMD had lower mean pre-transfusion Hb (< 9 g/dl) ( = 0.01). Eighty percent of osteopenic patients had sedentary lifestyle as compared to 44% of patients with normal BMD. Bone mineral density did not have any correlation with vitamin D levels, serum ferritin and type of chelation therapy.
Pre-transfusion hemoglobin of more than 9 gm/dL has a protective role in maintaining good bone health and bone mineral density. Engaging thalassemia patients in physical activity has a positive effect on bone mineral density. Low vitamin D levels contribute to symptoms of bone and joint involvement in thalassemia and the same needs to be determined and supplemented.
关于印度人群中β地中海贫血患者骨与关节疾病的范围及预防，可用数据不足，相关指南也很匮乏。本研究旨在确定β地中海贫血患者的骨与关节受累情况。评估骨形成和吸收的血清生化参数，并与这些患者的症状学相关联。该研究还确定他们的日常身体活动情况，并找出其与骨密度之间是否存在相关性。
本研究于2012年6月至2014年6月在我们中心对40例年龄在5至18岁之间、接受定期输血的β地中海贫血患者进行了定期随访。按照一份结构完善的问卷对所有患者进行访谈，询问过去1年中患者/家长描述的与骨与关节疾病相关的症状以及通过QAPACE问卷了解身体活动情况。在无菌条件下采集静脉血样，用于测定生化参数（钙、磷、碱性磷酸酶、维生素D、甲状旁腺激素和血清铁蛋白）。使用双能X线吸收法对入选受试者的股骨颈、大转子和沃德三角区进行骨密度扫描。
本研究共纳入40例患者（男∶女 = 80∶20）。半数患者（ = 20）有与骨与关节疾病相关的症状。最常见的症状是腿痛（42.50%），其次是背痛（22.50%）。无症状患者的平均血清维生素D水平高于有症状患者（22.2 vs 15.08 ng/ml）（ = 0.225）。检测到5例患者患有骨质减少，均超过10岁。有症状患者在股骨颈、大转子和沃德三角区的平均骨密度分别为0.781、0.639和0.735 g/cm，而无症状患者分别为0.754、0.635和0.722 g/cm。差异无统计学意义。骨密度低的患者输血前平均血红蛋白较低（< 9 g/dl）（ = 0.01）。80%的骨质减少患者生活方式久坐，而骨密度正常的患者这一比例为44%。骨密度与维生素D水平、血清铁蛋白及螯合治疗类型均无相关性。
输血前血红蛋白超过9 g/dL对维持良好的骨骼健康和骨密度具有保护作用。让地中海贫血患者进行体育活动对骨密度有积极影响。低维生素D水平导致地中海贫血患者出现骨与关节受累症状，需要对其进行测定和补充。
