Arthropathy in patients with transfusion-dependent thalassemia

Purpose: Beta-thalassemia, an autosomal recessive hemoglobinopathy, is one of the most common single gene diseases worldwide. Beta thalassemia is a severe type of major disease. There are many complications that develop upon the increased iron load as a result of the pathophysiology of the disease and repetitive blood transfusions. Besides, some side effects occur due to chelation treatment for the increased iron load. The disease is frequently seen in our region. Therefore, there are a great number of Thalassemia patients under the close follow-up in our clinic. We observe that these patients generally complain about arthralgia. The related literature was reviewed but not a large scale study which investigated the joint involvement in thalassemia patients. Our purpose in this study is to investigate the joint involvements of the transfusion-dependent thalassemia patients who are under the follow-up in our centre. Material and method: In this study, 45 patients with beta-thalassemia major and beta-thalassemia intermedia who were under the follow-up in our centre were evaluated cross-sectionally. No control group was taken in this study. During the polyclinic controls of the patients, some laboratory tests of hemogram, ANA, RF, ESR, CRP, ferritin and uric acid levels were simultaneously planned together with the conventional radiological evaluations of the radiographs of hand, foot, gluteal area, knee, sacroiliac and cervical and lumbar vertebras in order to define arthropathy. Peripheral joint radiographs demineralisation was evaluated in terms of intra-articular narrowing, arthritis and erosion parameters. In addition to these, the patients' demographical information, existence of additional disease, chelation medications, family history, inflammatory joint aches, morning stiffness, starting year of the ache, connective tissues symptoms, backache, existence of sensitive joint and swollen joints were examined. Findings: 6 of the patients in our study had beta-thalassemia intermedia ad 39 of them had beta-thalassemia major. The mean age of the patients was 33.31±10.72 year. One-year mean of their haemoglobin was 7.88±1.13 gr/dl and their mean ESR was 16.22±16.67 mm/h. Ferritin levels of five patients were >3000 ng/ml and CRP value of 6 patients were >8mg/dl. 14 (31.1%) of our 45 patients had complaints of peripheral joints. 19 (42.2%) of the patients had backaches. The most common complaint was backache. The complaints about joints were most common in hand joints (35.7%) and this was followed by knee joints (28.5%). When the radiograph findings of the patients were considered, joint findings were obtained in 16 (35.6%) of the patients while no findings were obtained in 29 (64.4%) of the patients in the hand radiographs. In the foot radiograph, joint findings were obtained in 17 (37.8%) of the patients while no findings were obtained in 28 (62.2%) of the patients. In the gluteal area radiograph, joint findings were obtained in 18 (40.0%) of the patients while no findings were obtained in 27 (60.0%) of the patients. When the total peripheral joint findings of the patients were regarded, it was seen that 19 (42.2%) of the patients had demineralization, 6 (13.3%) of them had intra-articular narrowing, 4 (8.9%) of them had arthritis, 5 (11.1%) of them had erosion while no findings were obtained in 26 (57.8%) of the patients. When the lumbar vertebra radiographs were checked, it was seen that 18 (40.0) of the patients had demineralization, 3 (6.7%) of the patients had compression fracture, 7 (15.6%) of the patients had osteophyte, 2 ( 4.4%) of them had erosion, 4 ( 8.9%) of them had sclerosis and 5 (11.1%) of them had scoliosis while no findings were obtained in 26 (57.8%) patients. Joint complaints were observed in 4 (36%) out of 11 (24.4%) patients who were using deferiprone. Seven (43.8%) of the patients with hand joint radiographs findings were taking deferiprone, and this rate was statistically higher in those with hand radiographs (p = 0.032, p <0.05). Seven (41.2%) of the patients with foot joint radiographs were using deferiprone, and this rate was significantly higher in patients with foot radiographs (p = 0.048, p <0.05). 34 patients were receiving deferasirox treatment. Twenty-five (89.3%) of the patients without hand joint radiographs were receiving deferasirox treatment, and this rate was found to be statistically and significantly higher in patients without hand radiographs (p = 0.005, p <0.05). 25 (89.3%) of the patients without foot radiographs were using deferasirox, and this rate was found to be significantly higher in patients without foot radiographs (p = 0.009, p <0.05). Twenty-four (88.9%) of the patients without knee radiographic findings were receiving deferasirox treatment, and this rate was found to be significantly higher in patients without knee radiographic findings (p = 0.014, p <0.05). Twenty-four (88.9%) of the patients without gluteal area radiographs were receiving deferasirox treatment, and this rate was found to be significantly higher in patients without gluteal radiographs (p = 0.014, p <0.05). 23 (88.5%) of the patients without total peripheral joint radiographs were using deferasirox, and this rate was found to be significantly higher in patients without total peripheral joint radiographs (p = 0.023, p <0.05). Twenty-three (88.5%) of the patients without lumbar vertebra radiographs were receiving deferasirox treatment and this rate was found to be significantly higher in patients without lumbar vertebra radiographs (p = 0.023, p <0.05). ANA was positive in 1 patient 1/160 titre. No additional finding about connective tissue diseases was found in this patient. RF was observed over >20 IU/L positive. RF positiveness of these two patients was considered due to existing HCV infection. Only one of our patients received RA diagnosis according to ACR criteria. No significant relationship was found between the joint radiograph findings and ferritin levels. No statistically significant differences were found between the findings of hand, foot, gluteal area, knee graphs and total peripheral joint graphs and the diagnosis of the patients. Result: Arthropathy is often observed in patients with transfusion-dependent thalassemia. There was no relationship between arthritis and elevated ferritin levels. Peripheral joint and lumbar vertebra radiographs were found to be higher in patients who did not use deferasirox chelation and this suggested that deferasirox use may be protective for arthropathy. It was also concluded that deferiprone treatment might also be the cause of existing joint findings. There was no significant difference between the diagnosis of the patients and radiographic findings. Keywords: Transfusion-dependent thalassemia, Arthropathy, Deferiprone