Prevalence of Gene Frequency in Haemoglobinopathies and Blood Groups in Uttarakhand

Various haemoglobinopathies are mutant form of haemoglobin disorders within a population, which is due to genetic mutations in specific genes or globins that cause changes or alterations in the amino acid sequence in α or β chains. Haemoglobin variants, major blood groups and Rh factor are liable to vary from individual to individual. Therefore, it is a need of time to rule out the frequency of these indices in Uttarakhand, India. Such genetic study will create a platform for instituting genetic counseling services with a view to reduce haemoglobinopathies. A sum total of 933 subjects aged 01 to 30 years were screened and analysed that 615 (six hundred fifteen) were males and 318 (Three hundred and eighteen) were females. Result of present study showed 4.2% prevalence of haemoglobinopathies. Out of total haemoglobinopathies screened subjects (41), β-thalassemia trait (30) was screened as highest followed by sickle cell trait (6), β-thalassemia major (3), HbS-D (1) and HPFH/Thal (1). The frequencies with respect to ABO and Rh blood group systems is shown as B>A>AB>O. The distribution of blood groups with 97.6%. Rhesus positive (Rh+) out of which B+ is 15 (36.5%), A+ 6 (14.6%), AB+ 6 (14.6%) O+ 13 (31.7%) found respectively.