Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Idiopathic myelofibrosis is a chronic myeloproliferative disorder characterized by excessive connective tissue deposition in the bone marrow. It presents with leucoerythroblastic anemia and massive splenomegaly. It is termed osteomyelosclerosis in the presence of primitive bone formation in the bone marrow and radiological presence of osteosclerosis. A 40-year-old male, known case of thalassemia trait presented with fatigue and lump in the abdomen for two months. Physical examination showed splenomegaly 8.5 cm below costal margin. X-ray examination revealed multiple osteosclerotic lesions involving the pelvis and long bones. Hemogram showed: hemoglobin 7.8 gm/dl, TLC 47,500/mm(3); DLC was polymorphs 49%, lymphocytes 7%, eosinophils 4%, basophils 4%, blasts 5%, promyelocytes 2%, myelocytes 14%, metamyelocytes 10%. Platelet count was 60,000/mm(3). Peripheral blood film showed leucoerythroblastic blood picture with features of dysmyelopoiesis. Bone marrow aspiration was diluted with peripheral blood. Bone marrow biopsy showed replacement of marrow by grade III reticulin fibrosis. Bony trabaculae were wide and thick. Platelet function studies were abnormal. The clinical, radiological and hematological features suggested a diagnosis of osteomyelosclerosis. We present this case because no similar association of osteomyelosclerosis with thalassemia trait has been described in English literature to date. This is the first study from India, which describes platelet function tests in a patient with osteomyelosclerosis.
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PMID:Osteomyelosclerosis with thalassemia trait: report of a rare association, study of platelet function tests and review of literature. 1861 73