نتایج جستجو برای: hypertransfusion
تعداد نتایج: 62 فیلتر نتایج به سال:
Severe hypertriglyceridemia has been observed in infants with beta-thalassemia major, an association termed hypertriglyceridemia-thalassemia syndrome. The pathophysiological basis for this association has remained unclear. We describe 6-month-old American girl with red cell pyruvate kinase (PK) deficiency, failure to thrive, and marked hypertriglyceridemia (=1500 mg/dL). The hyperlipidemia reso...
ßthalassemia is an inherited disorder of hemoglobin synthesis characterized by deficient synthesis of the ß-globin chain that causes severe anemia. Over the years, the combination of hypertransfusion and chelation therapy has significantly increased the survival of patients of ß-thalassemia. At the same time, there has been an increase in the frequency of complications, mainly caused by iron ov...
β-thalassemia is a hereditary hemolytic anemia associated with a decrease or complete lack of synthesis of β-globin chains as a result of inheriting the mutant gene. Currently there are more than 100 varieties of hemoglobin gene mutations, which can lead to β-thalassemia. In the world there are 60-70 thousand patients with major form of this genetic anomaly. The basic treatment for β-thalassemi...
Liver function and the presence of HBsAg and anti-HBsAg were studied in 90 hypertransfused thalassaemic children. Increased serum transaminases were found in 62 patients, and persisted from more than 6 months in 45 cases. Liver biopsy in this latter group led to a diagnosis of 14 cases of chronic persistent hepatitis, 9 cases of aggressive hepatitis, and 3 cases of hepatic fibrosis. In Italy th...
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and i...
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