Dr. Parineeta Shelke, Dr. Preeti Doshi, Dr. Amit Nisal, Dr. Abdulrahaman Momin, Dr. Ravindra Nimbargi,
Volume 19, Issue 2 (3-2025)
Abstract
Background and objectives: Hemoglobinopathies is group of genetic disorders affecting structure or production of hemoglobin. Two main categories are thalassemia syndromes and structural hemoglobin variants. Preventing inherited hemoglobinopathies has been recognized as an international health priority. These disorders can now be accurately diagnosed using HPLC. The present study was aimed at studying various hemoglobinopathies using HPLC from Western Maharashtra, India.
Methods: The cross sectional study was conducted in Bharati Vidyapeeth (DTU) Medical College, Pune. During the study period of 3 years, total 1455 specimens of either gender were analyzed for variant analysis, using VARIANTTM II β-thalassemia Short Programme. The HPLC with ion exchange chromatography principle was used. The hematological parameters were estimated in every subject. The incidence of hemoglobinopathies, with its types is presented.
Results: The age of the 1455 subjects included was 26.91 ± 7.06 years, of which majority were females. The overall incidence of hemoglobinopathies found to be 8.78%. The most prevalent condition was β-thalassemia minor, followed by β-thalassemia major, Hb S trait and Hb S disease. There were 2 cases with heterozygous for Hb D Punjab and 1 was heterozygous for Hb E. Mentzer index was positively associated with Hb F and MCH, and negatively associated with hemoglobin, Hb A and RDWC levels.
Conclusion: The incidence of hemoglobinopathies in this region was reported to be 8.78%. The commonest hemoglobinopathies reported was β thalassemia, of which most were heterozygous for β thalassemia trait. The presence of Hb E increased the severity of anemia when present with β-thalassemia
