الفهرس | Only 14 pages are availabe for public view |
Abstract β Thalassemia is one of the most common genetic disorders in Egypt. So it is priority genetic disease for prevention program. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples.This study aimed to detection of CAP+1 gene mutation and its incidence in Egyptian children with β-thalassemia.and correlate genetic mutations with clinical, phenotypic and dermatoglyphic features.from β thalassemic children registered at Hematology/Oncology Units(all Egyptian Units, covering Egyptian Territories), Pediatric departments,100 cases were randomly selected with age range from 1–17 years.All patients were subjected to complete history taking, age at diagnosis, age at start of regular transfusions, inter-transfusion interval, and history of splenectomy. |