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)

We present the case of a 48-year-old premenopausal woman with right lumbosciatalgia secondary to osteoporosic vertebral collapses. Two of her three offsprings, a 31-year-old man and a 16-year-old woman, had chronic dorsolumbalgia, the study of which suggested the diagnosis of minor beta-thalassemia. As opposed to thalassemic osteoarthropathy, frequently observed in the forms of "major" and "minor" beta-thalassemia, rheumatic manifestations have almost never been described in the "minor" forms. We highlight the possibility of symptomatic osteoporosis as the first manifestation and we review the locomotive disorders associated to this hemoglobinopathy.
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PMID:[Osteoporosis as the first manifestation of minor beta-thalassemia]. 162 1

Patients with beta-thalassemia develop a specific osteoarthropathy as they approach the second life decade. Radiological changes included osteopenia, widened medullary spaces, thin cortices with coarse reticulations, evidence of microfractures, premature epiphysiodesis of long bones and skeletal deformations. The fact that currently patients with beta-thalassemia have a longer life expectancy may explain the recent observations in this case report of this entity, which should become more familiar to orthopaedic surgeons who treat thalassemia patients in the future.
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PMID:[Arthropathy and late changes in thalassemia major. A case report]. 783 49

Patients with beta thalassaemia may develop a specific osteoarthropathy involving the feet. A number of different treatments for this condition have been tried, including rest, analgesia and hypertransfusion. We report a case of a patient with thalassaemic osteoarthropathy who responded to radiotherapy after failing conventional treatment.
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PMID:Thalassaemic osteoarthropathy treated with radiotherapy. 813 85