IJSR International Journal of Scientific Research 2277 - 8179 Indian Society for Health and Advanced Research ijsr-6-5-10796 Original Research Paper Gene Frequency Distribution in Abnormal Haemoglobin Varients and Blood Groups in North India Population Anil Kumar Malik Dr. Prof.Dr M.L.Suhalka Dr. May 2017 6 5 01 02 ABSTRACT

 Abnormal haemoglobin variants are most common monogenic mutant forms of haemoglobin anamoly of erythrocytes in a population, occurred due to variants in genetics. The alteration of different amino acid sequences takes place when there are genetic changes in specific genes or globins present in the haemoglobin alpha and beta chains. Earlier study to this subject depicts around 3–17% prevalence of β–thalassemia cases. Within one population to another the different abnormal haemoglobin varients, ABO and Rhesus blood groups are frequently variable. With this effect there arise a necessity to rule out the prevalence of these indices in North India population, particularly Uttarakhand, India. In addition to this a timely diagnosis and treatment to this condition with parental councelling became mandatory. The real frame of reference of the study is to know the ubiquity of most recurrent haemoglobinopathies in the state of Uttarakhand and to explore the substitute deliberate plans that could be inflicted for the efficacious regulation and controlling of these altered haemoglobinopathies. A sum total of 933 subjects aged between 01–30 yrs were screened and analysed that 627 (six hundred twenty seven) were males and 306 (three hundred six) were females. Result of present study showed 4.2% prevalence of haemoglobinopathies. Out of total haemoglobinopathies screened subjects (41), β–thalassemia trait (32) was screened as highest followed by β–thalassemia intermedia (6), β–thalassemia major (1), E&β–thalassemia (1) and S–D disease (1). The frequencies with respect to ABO and Rh blood group systems is shown as B > O > AB > A. The distribution of blood groups with 97.6% Rhesus positive (Rh+) out of which B+ is 17(14.4%), O+ is 13(31.7%), AB+ is 6(14.6%) and A+ is 4(9.7%). Only 1(2.4%) case of B– is seen. The maximum mutation detected was IVS 1–5 (G®C) M with 21(51.2%).