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)

The possibility that myocardial ischemia may be associated with chest pain during painful crises was evaluated prospectively in 20 patients (11 women and nine men) with sickle cell disease (19 SS, 1 S beta + thalassemia). Sixteen of 20 (80%) had abnormal ECGs, 7 (35%) had transient ST-T wave changes, and 3 (15%) had persistent ST-T wave changes, both consistent with ischemia; 6 (30%) had nonspecific ST-T changes, and 4 (20%) had normal tracings. Serum enzymes (CK, SGOT, LDH) were abnormal in 16 of 19 (84%); 1 had CK-MB detected, (5%) and 1 had LDH1 to LDH2 reversal. All 10 Tc-99m pyrophosphate scans performed were negative; 4 of 6 (66%) thallium-201 scans had focal defects, and 5 of 8 (63%) radionuclide angiograms (MUGAs) had focal wall motion abnormalities. Three of 8 (38%) MUGAs showed cardiac dilation, diffuse hypokinesis, and reduced ejection fractions. Thus, myocardial damage may be a potentially serious complication of patients with sickle cell anemia who present with chest pain during painful crises. Studies are indicated to define the significance and pathophysiology of these observations.
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PMID:Sickle cell anemia: does myocardial ischemia occur during crisis? 203 80

The goal of this study was the evaluation of specific markers of myocardial injury that includes CK-MB and troponin I in major thalassemic patients. Regular blood transfusion is the main treatment in major thalassemia. One of the most important complications of regular blood transfusion is iron overload that eventually involves many organs like heart and cause myocardial injury. Sixty patients with transfusion-dependent major thalassemia, at the age range of 8 to 15 years in Tabriz Pediatric Medical Center were chosen. Measurement of Hb, Hct and serum ferritin were performed in hospital laboratory, but total serum Creatine Kinase (CK) by photometric and isoenzyme of CK-MB by immunologic DGKC and cardiac troponin I (cTnI) were tested by ELISA methods in Shaheed Madani heart center laboratory before blood transfusion. For all patients echocardiography and ECG assessment of cardiac function were done by a pediatric cardiologist and results were statistically analyzed. Forty nine patients (group A) had normal left ventricular ejection fraction (LVEF = 50-70%) and 11 patients (group B) had reduced LVEF (20-45%). There was no statistical difference between two groups in average volume of blood transfusion (p = 0.074). Although total CK and CK-MB isoenzyme were higher in group B but there was no statistically meaningful difference between two groups (p = 0.123, p = 0.111). Troponin I also was higher in group B but statistically analysis showed no correlation between cardiac function and troponin I level in these groups (p = 0.827). This study showed that cardiac markers are not helpful for recognition of cardiac involvement in major thalassemia.
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PMID:Cardiac involvement of major thalassemia and evaluation of total serum creatine kinase and creatine kinase-mB isoenzyme and cardiac troponinI in these patients. 1881 Sep 80

Previous studies have shown that subjects with sickle cell trait (SCT), alpha-thalassemia (alpha-t), and the dual hemoglobinopathy (SCT/alpha-t) manifest subtle, albeit significant, differences during exercise. To better understand such differences, we assessed skeletal muscle histomorphological and energetic characteristics in 10 control HbAA subjects (C), 5 subjects with alpha-t (alpha-t), 6 SCT carriers (SCT) and 9 SCT carriers with alpha-t (SCT/alpha-t). Subjects underwent a muscle biopsy and also performed an incremental maximal exercise and a time to exhaustion test. There were no observable differences in daily energy expenditure, maximal power output (Pmax), or time to exhaustion at 110% Pmax (Tex) among the groups. Blood lactate concentrations measured at the end of the Tex, muscle fiber type distribution, and mean phosphofructokinase (PFK), lactate dehydrogenase (LDH), beta-hydroxyacyl-CoA-dehydrogenase (HAD), and citrate synthase (CS) activities were all similar among the four groups. However, SCT was associated with a lower cytochrome-c oxidase (COx) activity in type IIa fibers (P<0.05), and similar trends were observed in fiber types I and IIx. Trends toward lower creatine kinase (CK) activity (P=0.0702) and higher surface area of type IIx fibers were observed in SCT (P=0.0925). In summary, these findings support most of the previous observations in SCT, such as 1) similar maximal power output and associated maximal oxygen consumption (VO2max) values and 2) lower exercise performances during prolonged submaximal exercise. Furthermore, performances during short supramaximal exercise were not different in SCT. Finally, the dual hemoglobinopathy condition does not seem to affect muscle characteristics.
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PMID:Skeletal muscle structural and energetic characteristics in subjects with sickle cell trait, alpha-thalassemia, or dual hemoglobinopathy. 2057 43