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Cardiac MRI in Diagnosis, Clinical Management, and Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasi65,99 €![Molecular genetics of beta thalassemia syndrome in Pakistan]( "Molecular genetics of beta thalassemia syndrome in Pakistan")
Molecular genetics of beta thalassemia syndrome in Pakistan26,99 €![HEREDITARY PREDISPOSITION TO BREAST AND/OR OVARIAN CANCER]( "HEREDITARY PREDISPOSITION TO BREAST AND/OR OVARIAN CANCER")
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The beta-thalassemia intermedia (TI) are very heterogeneous in clinical and molecular expression. The objective of this work was to study the phenotypic and genotypic aspect of 47 TIs from our center. The molecular study was done in 28 patients. The average age at diagnosis was 17.68 years. Jaundice and splenomegaly were found in 68% and 94% of cases respectively. The mean hemoglobin level was 8.37 g/dl and the mean GMV was 70.36fl. The mean levels of HbA, HbA2 and HbF were 55.9%, 4.3% and 39.7% respectively. 59.6% of patients were splenectomized. 12.8% of patients were regularly transfused, 51.1% were infrequently transfused and 36.1% were never transfused. The mean ferritin level in transfused patients was 1242ng/ml versus 321.7ng/ml in non-transfused patients (p<0.001). 10 mutations were noted resulting in 12 different genotypes. Codon 39 was the most common mutation (35.7%) followed by the -29 A>G mutation (14.3%). A rare case of homozygous mutation affecting the polyadenylation region of the beta-globin gene was found. IT poses a diagnostic problem that remains primarily clinical.