Patterns of hemoglobinopathies diagnosed by high-performance liquid chromatography in and around Pune (Western Maharashtra, India): A pilot study

Background: Hemoglobinopathies are one of the major public health problems in the state of Maharashtra, India. Their prevalence shows regional and ethnic variations. Pune, now becoming educational and IT hub cater populations from different regions. Aim: To study the pattern of hemoglobinopathies diagnosed by high-performance liquid chromatography (HPLC) in Western Maharashtra, India. Settings and Design: This pilot study was aimed to find the prevalence of hemoglobinopathies in and around Pune (Western Maharashtra, India) and identify the change in the demographic profile Materials and Methods: A total of 3465 cases received from January 2012 to December 2014 for hemoglobin variant analysis at the referral laboratory were studied for hemoglobinopathies. Samples were received from various private hospitals and laboratories in and around Pune. The samples were run on instrument manufactured by Bio-Rad Laboratories based on the principle of HPLC. Based on retention time and proportion of hemoglobin (Hb) variants different hemoglobinopathies were diagnosed and their prevalence were analyzed. Results and Conclusions: Out of total 3465 patients screened for suspected hemoglobinopathies 175 (5.05%) were found positive for abnormal Hbs with maximum number in the age group 20-30 years. We found that a maximum number of patients was of thalassemia trait with a prevalence of 3.7%, followed by double heterozygous states of Sickle cell with beta thalassemia trait, sickle cell trait, and sickle cell disease in decreasing order. Other rare variants such as Hb E disease, Hb D disease, Hb E trait, double heterozygous Hb SD, and Hb SC were also identified. We found more heterozygous states as compared to homozygous states. Prevalence was on the lower side of the normal range. Conclusion: Continuous awareness programs, mass screening of the population especially childbearing age and school going children will help in early detection of heterozygous states. This further helps in preventing severe hemoglobinopathies and reducing the morbidity and mortality.