Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The light-microscope finding of red cell membrane fragments in the form of long filamentous processes and myelin bodies in the blood smears of a patient with sickle cell anemia has recently been described. This phenomenon has been termed erythrocytic ecdysis. We examined the blood smears of all sickle cell anemia patients admitted to the Cook County Hospital and those attending the hemoglobinopathy clinic between October 1979 and December 1981. Nine instances of erythrocytic ecdysis were uncovered. Associated clinical conditions included congestive heart failure, acute viral syndrome, pneumonia, and metastatic malignancy. Transient ecdysis associated with congestive heart failure was noted for one patient during two separate admissions one year apart. Ecdysis is a transient form of erythrocytic fragmentation occurring in sickle cell anemia. Its pathogenesis is unknown. The role of regional circulatory stasis and hypoxia in the induction of erythrocyte membrane damage in sickle cell anemia needs investigation.
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PMID:Erythrocytic ecdysis in smears of EDTA venous blood in eight patients with sickle cell anemia. 311 41

Osteonecrosis secondary to sickle cell anemia and its genetic variants has many presentations depending on the age of onset and the extent of femoral head involvement. Total hip arthroplasty provides the greatest opportunity for clinical improvement of all treatment options, though early and late complication rates are high. Technical difficulties of total hip arthroplasty are related to marrow hyperplasia and the presence of sclerotic intramedullary bone. Surgical complications related to sickle cell hemoglobinopathy include vaso-occlusive crises, congestive heart failure, major transfusion reactions, intraoperative femoral fracture, femoral perforation, late aseptic loosening of acetabular and femoral components, and sepsis.
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PMID:Osteonecrosis of the hip in sickle cell hemoglobinopathy. 777 53

Cardiovascular involvement is a leading cause of mortality and morbidity in patients with inherited hemoglobinopathies, but it has not been adequately assessed in sickle beta-thalassemia. We evaluated 115 sickle beta-thalassemia patients, aged 34 +/- 14 years, along with 50 healthy controls, by resting echocardiography. Patients with systolic left ventricular (LV) dysfunction or severe pulmonary hypertension (PHT) also underwent left and right cardiac catheterization and cardiac magnetic resonance imaging (CMR). Left and right chamber dimensions, LV mass, and cardiac index were significantly higher in patients compared to controls (p < 0.001 in most cases). Three patients (2.9%) had reduced LV ejection fraction (<55%); mean LV ejection fraction was significantly lower in patients (p < 0.001). Left and right ventricular systolic tissue Doppler indices and LV diastolic tissue Doppler indices were also impaired in patients. All three patients with systolic LV dysfunction had normal coronary arteries and mild myocardial iron load (CMR T2* values, 18-25 ms). Systolic pulmonary artery pressure was significantly higher in patients compared to controls (p = 0.002); PHT was present in 28 patients (27%), while severe PHT in three (2.9%). In three patients with severe PHT, only one had impaired LV ejection fraction and increased pulmonary wedge pressure. Overall, three patients (2.9%) had a history of heart failure, two with systolic LV dysfunction, and one with severe PHT. Cardiac involvement in sickle beta-thalassemia concerns biventricular dilatation and dysfunction along with PHT, leading to congestive heart failure.
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PMID:Cardiac involvement in sickle beta-thalassemia. 1910 83

We present the case of a 29-year-old male with a history of Mizuho hemolytic anemia, a rare form of unstable hemoglobinopathy, who presented with congestive heart failure secondary to recurrent valve thrombosis despite appropriate oral anticoagulation. He subsequently required mitral and aortic valve replacement. Pathologic examination revealed extensive nonbacterial thrombotic endocarditis. Due to recurrent thrombosis despite therapeutic anticoagulation, we elected to treat him with red blood cell exchange transfusions and hydroxyurea. He has remained free of symptoms for almost two years with this treatment regimen without side effects. <Learning objective: The management of nonbacterial thrombotic endocarditis (NBTE) is well described in the literature. However, the treatment for refractory NBTE in aggressive forms of unstable hemoglobinopathy remains difficult. The use of hydroxyurea and serial red blood cell exchange, in addition to the usual therapies, may be useful in the treatment of refractory NBTE.>.
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PMID:Recurrent nonbacterial thrombotic endocarditis: A novel therapeutic approach. 3027 85