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)

A 52-year-old woman with nonspecific left leg pain was examined by Tc-99m methylene diphosphonate (MDP) bone scintigraphy. The patient had been a marble quarry worker for 10 years and had developed chronic congestive heart failure secondary to pneumoconiosis. Her hemoglobin analysis and hematologic findings were interpreted as being consistent with sickle cell beta+ thalassemia and also hypersplenism. Bone scintigraphy showed intense and diffuse MDP accumulation in the enlarged spleen without ultrasonographic or radiologic evidence of calcification.
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PMID:Diffuse splenic Tc-99m MDP uptake in hypersplenic patient. 1568 53

We present the analgesic management of a 4-year-old child who suffered from severe abdominal and leg pain during his first vaso-occlusive crisis with sickle cell disease, diagnosed as beta/S disease when he was 1 year old. His mother and father were carriers of beta-thalassemia and hemoglobin S, respectively. He had an upper respiratory tract infection in which a vaso-occlusive crisis was precipitated. On admission to hospital, fever, severe abdominal and leg pain were noted. Hemoglobin was 4 g x dl(-1) with accompanying prominent reticulocytosis and acute spleen enlargement. These findings indicated a sequestration crisis as well as vaso-occlusive disease. He was transfused with packed red cells. Paracetamol (40-60 mg x kg(-1) x day(-1)) and ibuprofen (20 mg x kg(-1) x day(-1)) were administered to relieve pain. The child experienced moderate to severe pain (Oucher score 60-80) despite nonopioid analgesics, so a tramadol infusion (0.25 mg x kg(-1) x h(-1)) was started. During the tramadol infusion no morphine was required, the intensity of pain gradually decreased (Oucher score 20) and the child was able to move his legs. At the end of 3 days splenomegaly regressed, no fever and pain were observed and the infusion was stopped. In conclusion, tramadol infusion i.v. (0.25 mg x kg(-1) x h(-1)) combined with nonopioids was effective to relieve moderate to severe pain due to vaso-occlusive crisis and can be recommended before using morphine in a pediatric sickle cell crisis.
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PMID:Tramadol infusion for the pain management in sickle cell disease: a case report. 1718 40

Sideroblastic anemia is a rare cause of microcytic hypochromic anemia. In Bangladesh, most common causes of microcytic anemia are iron deficiency anemia, anemia of chronic diseases and thalassemia. Serum ferritin is usually done to differentiate them. If serum ferritin is low, the diagnosis of iron deficiency is entertained. When serum ferritin is raised but erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are normal - anemia of chronic disease is excluded. The next investigation is Hb-electrophoresis. Normal Hb-electroporesis excludes thalassemia. Then bone marrow examination with iron stain is done for the diagnosis of sideroblastic anemia. Here we report a case of a 14 year old girl presenting with intermittent leg pain and anemia. Her blood flim showed microcytic hypochromic anemia with raised serum ferritin and normal Hb-electroporesis. Initially she was labeled as a case of unusual type of thalassemia and treated with blood transfusion. Finally bone marrow examination with iron stain was done and she was diagnosed as a case of congenital sideroblastic anemia. We reviewed the literature and discussed the management as well.
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PMID:Congenital sideroblastic anemia treated as thalassemia major. 2095 13