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

A case is presented of a woman with primary hyperparathyroidism due to a parathyroid adenoma with deep mediastinal localization successfully treated surgically. The disease was manifested at the beginning with joint pains only, followed by extreme bone, renal and metabolic disorders endangering the life of the patient. The unusually severe sceleton decalcification is linked with the functional exhaustion of the calcitonin C producing cells. The changes in these cells in the resected thyroid tissue were discrepant with the hypercalciemia. A special feature of the case is the combination of parathyroid adenoma with a number of dysmorphic signs, with a persistent thymus and beta-thalassemia (heterozygotic form) with familial predisposition--thalassemia of the mother and malformations of the patient's child. On this basis the authors presume a genetic determination of the basic disease similar to other forms of primary hyperparathyroidism.
 ...
PMID:[A combination of ectopic parathyroid adenoma and thalassemia with manifestations of extreme hyperparathyroidism]. 274 49

The aim of this study was to evaluate the effects of calcitonin (CT) treatment on bone pain, osteoporosis, bone fractures and blood chemistry in thalassemic patients. Twenty-four patients with an age range of 10-24 years were included, 14 of whom received 100 IU CT and 250 mg calcium 3 times a week. The others (n = 10) were followed up as a control group with only routine thalassemia therapy. After 1 year of treatment, bone pain disappeared and radiological signs of osteoporosis had improved significantly (p < 0.01) in the treatment group. CT has no important side effects.
 ...
PMID:Effects of calcitonin therapy on osteoporosis in patients with thalassemia. 772 45

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.
 ...
PMID:The morbidity of bone disease in thalassemia. 966 56