Abstract
Identification and Molecular Characterization of the Most Common Types of Beta Thalassemia Mutations in Sudanese Patients
Highlights
Thalassemia is a Mendelian autosomal recessive heritable blood disorder it’s a group of genetically determined microcytic, hypochromic anemia’s resulting from decrease in synthesis of one or more globin chains in the hemoglobin molecule
The results showed that 25 patients were positive and 36 patients were negative to 5 mutations including in the study, the frequency of IVS-I-110 positive mutations was14 (56%) which is the most common followed by IVS-I-6 (T→C) mutation which was positive in 7 patients (28%) and IVS-I-1 mutation which was positive in 4 (16%) (Table 2), whereas 36 (59%) patients showed negative for IVS-I-5 and -87 which were not detected in the present study
According to the age group our results were positive in 16 Children and 45 were positive in adults (Table 2), In IVSI-110 the frequency of adults were 9 while children’s were 5, for IVSI-1 2 positive cases were adult while 2 were children, IVSI-6 showed 2 positive adults and 5 in children’s
Summary
Thalassemia is a Mendelian autosomal recessive heritable blood disorder it’s a group of genetically determined microcytic, hypochromic anemia’s resulting from decrease in synthesis of one or more globin chains in the hemoglobin molecule. The most common types are alpha and beta thalassemia according to which globin chain is reduced. Thalassemia was historically found in warmer areas of the world and became prevalent in those areas because they coincide with the areas where malaria is prevalent, and thalassemia provides some protection against malaria, resulting in more thalassemia’s carriers surviving malaria epidemics than non-thalassemia’s, thereby inflating the percentage of those populations carrying the thalassemia genes [1,3]. Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called betaglobin. Beta-globin is a component (subunit) of hemoglobin. Beta thalassemia mutations are characterized according to the extent of defect information of beta-globin chains, some mutations in the
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: American Journal of Biomedical Science & Research
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
