Prevalence of Thalassaemia Mutations in Sickle Cell Disease Population of Madhya Pradesh, Central India

Sickle hemoglobin (HbS) is caused by a single nucleotide substitution (A → T) in the 6 th codon of -globin gene on chromosome 11 which results in replacement of Glutamic acid (GAG) by Valine (GTG) (Pauling et al., 1949; Ingram 1956). Under deoxygenated conditions, this substitution causes HbS polymerization (Bunn, 1997) and modifies the stability of the hemoglobin leading to the clinical disorder. The homozygous state of the sickle gene ( S ) results in sickle cell anemia (SCA) and is responsible for the most common severe variant of Sickle cell disease. Thalassemias occur due to reduced or no hemoglobin production from lack of synthesis of alpha or beta chains. Alpha thalassemia (International Journal of Current Microbiology and Applied Sciences ISSN: 2319-7706 Volume 5 Number 7 (2016) pp. 768-777 Journal homepage: http://www.ijcmas.com