Study of Hemoglobinopathies in Ajmer region (Rajasthan)

Geeta  Pachori; Rashmi  Sharma; Supriya  Singh Toor; Neena  Kasliwal; Nanik  Jethani; Ravikant  Sunaria

Geeta Pachori Senior Professor and head, Department of Pathology, JLN Medical College Ajmer.
Rashmi Sharma Assistant professor, Department of Pathology, J.L.N. Medical College and Associated group of Hospitals, Ajmer.
Supriya Singh Toor Resident doctor, Department of Pathology, J.L.N. Medical College and Associated group of Hospitals, Ajmer.
Neena Kasliwal Senior professor, Department of Pathology, J.L.N. Medical College and Associated group of Hospitals, Ajmer.
Nanik Jethani Professor, Department of Pathology, J.L.N. Medical College and Associated group of Hospitals, Ajmer.
Ravikant Sunaria Senior Demonstrator, Department of Pathology, J.L.N. Medical College and Associated group of Hospitals, Ajmer.

Abstract

Introduction: Hemoglobinopathy is an inherited condition with alteration in the structure or quantity of hemoglobin, which reduces the oxygen carrying capacity of blood, manifesting as anemia that is unresponsive to conventional iron therapy.

Materials and methods: Data of 190 patients was collected for 6 months, retrospectively, who were screened by using complete blood count (C.B.C.), red cell indices, peripheral blood film (PBF) and High Performance Liquid Chromatography, HPLC (Bio Rad Variant II). Patients with severe anemia were included in the study.

Result: A total of 44 (23.15%) cases of various abnormal hemoglobins were detected using combination of red cell indices and HPLC technique. Most common hemoglobinopathy detected was 26 (13.68%) cases of beta-thalassemia minor, 7 (3.68%) cases of delta-beta thalassemia, 5 (2.63%) cases of beta-thalassemia major, 2 (1.05%) cases each of homozygous hemoglobin-D disease and hemoglobin-Q disease, 1 (0.52%) case each of hemoglobin E disease and HbS-beta thalassemia. Out of total cases detected, 23 (52.27%) cases were female patients, and 21 (47.72%) cases were males. The age group of patients ranged from 6 months to 80 years, with most cases of beta-thalassemia minor detected under 5 years of age.

Discussion and conclusion: HPLC is an accurate and reliable tool to screen patients for hemoglobinopathies, especially targeting patients with refractory anemia. Screening and identification of these conditions has special importance in our national goal of achieving 12gm% hemoglobin by the age of 12 in all children in the country.