Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The objective of this study was to determine the prevalence and possible pathogenesis of scoliosis in beta-thalassemia in our country, and to compare its characteristics to those of patients with idiopathic scoliosis from the same geographic area. Twenty-four [13 male and 11 female thalassemic patients aged 16 +/- 7 years (range 7-32 years)] of 115 examined patients with beta-thalassemia showed scoliosis of 14 degrees +/- 11 (range 10-65 degrees) radiologically. The prevalence of scoliosis in the thalassemic population was 21% in this series, whereas the overall prevalence of scoliosis in the general Greek population was 6% (Smyrnis PN, Valavanis J, Alexopoulos A, Siderakis G, Giannestras NJ: School screening for scoliosis in Athens, J Bone Joint Surg 61B:215-217, 1979). The scoliosis prevalence in the general population was significantly higher in the females (5%) than in the males (1%), whereas no difference in prevalence was found between the two sexes in the thalassemic population. The most common curve pattern in thalassemia was the left lumbar (38%) followed by the right lumbar (21%), whereas in patients with idiopathic scoliosis the left thoracolumbar most commonly appeared (25%) followed by the left lumbar (14%). No patient with thalassemia showed radiographic signs of congenital spinal deformities and spinal fractures, whereas all patients showed a significant retardation of their skeletal maturation. The age of the thalassemic patients with scoliosis was significantly (p = 0.0003) higher than in patients without scoliosis. The hematocrit of the thalassemic patients with scoliosis was significantly (p = 0.0012) lower than in those without scoliosis, whereas the rate of transfusions was not correlated with the magnitude of the scoliosis. The level of ferritin was significantly (p = 0.025) higher in the thalassemic patients with scoliosis than in those without scoliosis. The duration of Desferal treatment was significantly (p = 0.0357) longer in thalassemic patients with scoliosis when compared with those without scoliosis. Thus, the prevalence, curve pattern, and etiology of scoliosis in beta-thalassemia differ from those of idiopathic scoliosis, indicating that the spinal deformities in thalassemia represent a distinct type of scoliosis.
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PMID:Prevalence of scoliosis in beta-thalassemia. 879 87

A review of the literature during the past year on rheumatic manifestations in hematologic diseases supports the idea that 80% of the hemorrhage in hemophilia occurs within the joints, with knees, elbows, and ankles being the most affected joints in adults. In contrast, the ankle is the target joint in children. Septic arthritis in hemophilic patients is becoming more important due to the advent of HIV infection. Radioactive synoviorthesis in hemarthrosis has the same rate of success as surgical synovectomy, but with far lower costs. A new study documents the association of arthritis and vasculitis in patients with myelodysplasic syndromes and lymphoproliferative disorders. An increased incidence of scoliosis in patients with beta-thalassemia has been noted. Finally, the effects of bone marrow transplantation in patients with previous autoimmune diseases is reviewed. Progression of rheumatoid arthritis after bone marrow transplantation is documented in a patient with 13 years of follow-up. Hematologic disorders in rheumatic diseases are not the topic of this review.
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PMID:Rheumatic manifestations of hematologic disorders. 944 95

As thalassemia patients age, bone disease becomes a serious cause of morbidity. The frequency and type of bone disease is affected by the underlying type of thalassemia and its treatment. Problems include rickets, scoliosis, spinal deformities, nerve compression, fractures and severe osteoporosis. In early stages, patients may be asymptomatic but can present with back pain, a limp, dyspnea, neurological emergencies, or sudden fractures. The etiologies are often multifactorial, culminating with increased bone resorption and remodeling. They include hormonal deficiency, bone marrow expansion, nutritional deficiency, or desferal toxicity. Particular risk factors include older patients, low baseline hemoglobin, delayed puberty, hormonal failure, and high iron stores. Nutritional deficiencies may further compound the patient's risk for bone disease. Increasing evidence suggests that these complications and their associated long-term morbidity can be prevented if an annual screening is done, followed by long-term intervention. Patients treated with amino biphosphonates inhibit bone resorption and may demonstrate rapid healing. Intra-nasal calcitonin has also been successful in treating osteopenia. Early use of estrogen and testosterone appears to markedly lower the risk for selective patients. Both transfused and non-transfused patients should be educated about risk factors and early symptoms. All patients should be screened annually for bone disease. Once adolescence occurs, annual testing in selected cases should include bone density studies with X-ray absorptiometry.
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PMID:The morbidity of bone disease in thalassemia. 966 56

Beta-thalassaemias have a wide variety of musculoskeletal system manifestations. In this cross-sectional study, we aimed to investigate the frequency and features of musculoskeletal system problems in children with beta-thalassaemia. A total of 20 beta thalassaemic patients with an average age of 13.8 years were enrolled in the study. In all patients studied, detailed history regarding musculoskeletal involvement was taken and locomotor examinations were performed. All patients underwent radiographic examination with standing anteroposterior and lateral X-rays of the spine. Two physicians blinded for the diagnosis used Cobb technique for determining the degree of scoliosis. In 12 of 20 patients (60%) locomotor system involvement was found. Most frequent complaints were arthralgia and low back pain in 30% and 25% of patients respectively. Scoliosis was detected radiologically in 40% of patients with a lateral curve of at least 5 degrees Cobb.
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PMID:Beta thalassaemia: a report of 20 children. 1008 48

This prospective study compares several roentgenographic parameters of the thoracic and lumbar spine in patients with beta-thalassemia and in healthy persons who served as controls. Eighty-four patients with beta-thalassemia and 84 age- and gender-matched healthy persons were examined clinically and radiologically (thoracic kyphosis, lumbar lordosis, and vertebral and sacral inclination). Although there was a significant difference in the vertebral inclination from T6 to L1, L4, and L5 between patients and controls, thoracic kyphosis and lumbar lordosis did not differ in the two groups. The apical vertebra of the thoracic kyphosis in patients and controls was T7 and T6, respectively, whereas L4 was the apical vertebra of the lumbar lordosis in both groups. There were no age- or gender-related differences in the magnitude of sacral inclination, thoracic kyphosis, or lumbar lordosis in the patients with beta-thalassemia compared with controls. Lumbar lordosis was significantly correlated with sacral inclination in both patients with beta-thalassemia and controls. Beta-thalassemia does not affect sagittal profile of the thoracic and lumbar spine but it is associated by structural changes on the frontal plane of the spine that are expressed as a high prevalence of scoliosis.
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PMID:Correlative analysis of the sagittal profile of the spine in patients with beta-thalassemia and in healthy persons. 1078 Jun 85

A patient with thalassemia minor and idiopathic scoliosis was scheduled for posterior vertebral arthrodesis. The diagnosis of thalassemia minor was made during the preoperative assessment. Preoperative blood cell count displayed the following data: red blood count 5.4 x 106/microL, haemoglobin 11.6 g/dL and hematocrit 36.9%. As corrective surgery for scoliosis is associated with major blood loss, the patient was scheduled for preoperative treatment with human recombinant erythropoietin (rHuEPO), autologous blood donation, intraoperative blood cell salvage and administration of tranexamic acid. The use of rHuEPO was intended to increase hemoglobin (12.1 g/dL) levels at the moment of surgery following the donation of 2 autologous blood units. 1000 mL of salvaged blood were processed. The output line of the blood cell salvage machine did not show any sign of increased red cell haemolysis. The postoperative course was uneventful and the patient was discharged from the postoperative intensive care unit on day 7 after surgery with no allogenic blood transfusion. No references detailing the use of rHuEPO and autologous blood donation preoperatively in patients with thalassemia minor and only one case report discussed the utility of intraoperative blood cell salvage in a patient with thalassemia intermedia. Although further experience is needed, this case report suggests that even for patients with thalassemia minor, methods focused on allogenic blood salvage can be used safely.
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PMID:Bloodless surgery in a patient with thalassemia minor. Usefulness of erythropoietin, preoperative blood donation and intraoperative blood salvage. 1752 23

The survival of patients with thalassemia major has progressively improved with advances in therapy; however, osteoporosis and cardiac dysfunction remain frequent complications. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. Vitamin D deficiency and insufficiency is reported to be high in thalassemic patients in many countries despite the presence of good sunshine and routine prescription of 400-1,000 IU vitamin D per day. The risk of vitamin D deficiency in thalassemia and its relation to bone disease; including osteoporosis, rickets, scoliosis, spinal deformities and fractures as well as to cardiac dysfunction is discussed in this mini-review. Monitoring and maintaining normal serum level of 25-OH vitamin D through oral intake of vitamin D and early correction of VDD by oral or parental use of vitamin D may significantly improve bone mineral accretion and ameliorate cardiac function.
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PMID:Vitamin d status in thalassemia major: an update. 2410 7