Beta thalassemia mutations pdf
We used denaturing gradient gel electrophoresis to detect the betathalassemia mutations in the Chinese population. By amplifying the betaglobin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes.To identify the betaglobin gene mutations associated with betathalassemia (betathal) intermedia in Kuwait. Eighteen patients from 13 unrelated families, mean age 12. 7 8. 1 years, range 431 beta thalassemia mutations pdf
Methods: The mutation screening was carried out using ARMSPCR in children with beta thalassemia. Results: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SCSTOBC to be at higher risk as compared to others.
LCR, a genetic regulatory element, was examined in betathalassemia patients who do not show any mutation in the betaglobin genes. Beta thalassemia is also known as Cooleys anemia and Mediterranean anemia. 1, 2. What are the symptoms of Beta Thalassemia and what treatment is available? Beta thalassemia is classified into two types, thalassemia major, the severe form, and thalassemia intermedia, a 2less severe form. beta thalassemia mutations pdf Thalassemia is the most common genetic disorder world wide. 1, 2 More than 200 causative molecular defects have been described to date in the betaglobin gene causing beta thalassemia. 3, 4, 5 These are not uniformly distributed, but have geographic specificity, and each ethnic group has a few common mutations and a variable number of rare ones.
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. beta thalassemia mutations pdf How can the answer be improved?Rating: 4.42 / Views: 855