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)

Surgical excision followed by radiotherapy has been the recommended treatment for paraplegia due to extramedullary hematopoiesis in patients with beta-thalassemia. The authors report the successful treatment of such a case by partial excision and repeated blood transfusions.
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PMID:Paraplegia due to extramedullary hematopoiesis in thalassemia. Case report. 357 25

Extramedullary hematopoiesis is a common accompaniment of a variety of hematologic diseases such as hereditary spherocytosis, thalassemia and myelofibrosis. The association of extramedullary hematopoiesis with polycythemia vera in the proliferative phase is much less usual. We report a patient who presented with paraplegia due to spinal cord compression; clinical investigation revealed a paravertebral hematopoietic tumor, and the diagnosis of polycythemia vera was then established.
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PMID:Spinal cord compression due to extramedullary hematopoiesis in the proliferative phase of polycythemia vera. 892 92

Extramedullary haemopoiesis causing spinal cord compression is a rare manifestation of thalassemia. We describe a 17 year old male with thalassemia intermedia who presented with progressive paraplegia and sphincter disturbance. Magnetic resonance imaging revealed an epidural lesion extending from T5 to T8 compressing the spinal cord. The patient recovered completely after surgical decompression with postoperative radiation therapy. Histological examination of the lesion confirmed the diagnosis of extramedullary haemopoiesis. Clinical awareness of this phenomenon with early treatment is essential for optimizing the neurological outcome.
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PMID:Extramedullary haemopoiesis in thalassemia intermedia presenting as paraplegia. 1260 97

The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-mutations were studied by PCR-RFLP and ARMS respectively. Commonest features were pallor (100%), splenomegaly (74%), and hepatomegaly (65%), 43% (10/23) were on regular transfusions at diagnosis. One case presented with paraplegia. Patients heterozygous for Xmn I polymorphism (+/-) had later onset (>3 yrs) compared to homozygous (-/-) absence (0.5-2.8 yrs). Most (69.6%) showed beta-mutation IVS 1-5 (G-->C). Negative correlation was found between age of onset and HbE. Thus, presentation is similar to previously reported Thai cases. Heterozygosity of Xmn I polymorphism also delays disease onset. Early diagnosis facilitates appropriate management and prenatal diagnosis.
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PMID:Hemoglobin E-beta thalassemia: factors affecting phenotype. 1587 97

We report a 24 years old patient with thalassaemia intermedia and gynecomastia, complicated by paraplegia and urinary/fecal incontinence due to spinal cord compression by an extramedullary erythropoiesis (EE) mass, treated with long-term hydroxyurea (HU). Neurological improvement occurred during the first 6 weeks of HU therapy (1,000 mg/day) and magnetic resonance imaging showed a reduction in EE mass. HU dosage was reduced to 500 mg/day after 5 months, and treatment was discontinued after 25 months. Five months later there was a partial recurrence of neurological symptoms, which responded to radiotherapy. HU may have a role in the symptomatic treatment of spinal cord compression due to EE, particularly when radiotherapy is unavailable.
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PMID:Paraplegia due to spinal cord compression by extramedullary erythropoietic tissue in a thalassaemia intermedia patient with gynecomastia secondary to cirrhosis: successful treatment with hydroxyurea. 1646 20

Spinal cord compression due to extramedullary hematopoiesis (EMH) is a rare complication of thalassemia and generally presents as paraparesis with sensory impairment. Complete paraplegia is extremely rare in EMH due to thalassemia although it is known to occur in polycythemia vera and sickle cell anemia. Treatment options mostly include surgery and/or radiotherapy. Whereas cases presenting with paraparesis have been treated with either surgery or radiotherapy with equal frequency and efficacy, almost all reported cases with paraplegia have been treated with surgery with or without radiation therapy. We hereby report a case of thalassemia intermedia with paraplegia treated successfully with radiotherapy.
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PMID:Paraplegia due to extramedullary hematopoiesis in thalassemia treated successfully with radiation therapy. 1740 52

Extramedullary hematopoiesis (EMH) occurs in patients with various hematologic disorders involving a chronic increase in the production of red blood cells, and is often associated polycythemia vera and sickle cell anaemia, but is less common with thalassemia especially with hemoglobin E-beta thalassemia. Spinal cord compression due to EMH is a extremely rare complication of thalassemia and may present with paraparesis or paraplegia with or without sensory impairment. Treatment options mostly include surgery and/or radiotherapy. Whereas cases presenting with paraplegia have been treated with either surgery or radiotherapy with equal frequency and efficacy, almost all reported cases with paraplegia have been treated with surgery with or without radiation therapy. We hereby report a case of hemoglobin E-beta thalassemia with paraplegia treated successfully with radiotherapy.
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PMID:Extramedullary hematopoiesis and paraplegia in a patient with hemoglobin e-Beta thalassemia. 2063 44

Acute transverse myelopathy in a young person may be due to infection, postinfective or inflammatory demyelination, or vascular causes. Rarely, a completely reversible cause of acute transverse myelopathy may be seen, as described here in our case of transverse myelopathy due to extramedullary haematopoiesis (EMH). An 18-year-old man who had a history of a lone blood transfusion at age of 7 years presented with paraplegia. MRI showed multiple epidural space masses of EMH compressing the spinal cord. He was detected to have thalassaemia intermedia and was treated with blood transfusions, steroids and radiotherapy to the involved paraspinal areas. He recovered fully over 15 days and remained symptom free at 6 months.
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PMID:Unusual presentation of extramedullary haematopoiesis in a young boy. 3090 83