Alarming Rise of Haemoglobinopathies in Jammu Division

Introduction: Haemoglobinopathies are major public health problems in India. Haemoglobinopathies are inherited single gene disorders having abnormal globin protein. Genes in α-globin and β-globin genes clusters (on chromosomes 16 and 11) control globin chain production. Due to spontaneous mutation in globin genes haemoglobin variants are produced. Disorders range from thalassemia to many hemoglobin variants with no, mild or severe consequences for the carrier. Materials and Method: The present laboratory-based retrospective study was conducted for a period of two years from January 1, 2013 to December 31, 2014 in the Government Medical College, Jammu. Data of 543 patients who had come to the laboratory for their hemoglobin electrophoresis was compiled and studied. Complete blood count was carried out on HMX (Beckman Coulter) and hemoglobin electrophoresis for diagnosing any abnormal hemoglobin disorder was done on D10 (BIO RAD). Results: Out of 543 patients, 368 (67.77%) were normal and 175 (32.23%) had abnormal hemoglobin pattern. Spectrum of haemoglobinopathies prevalent in descending order were 13.99% β-thalassemic trait, 6.26% α-thalassemic trait, 4.6% elevated fetal haemoglobin, 2.57% false elevation of hemoglobin A2 because of mean corpuscular volume, 1.29% β-thalassemic major, 0.93% haemoglobin S homozygous, 0.74% borderline hemoglobin A2, 0.55% patients were with other type of hemoglobinopathies. Conclusion: High prevalence of haemoglobinopathies in Jammu division makes the disease a major public health problem in our population. Population screening, genetic counseling and prenatal diagnosis can prevent these genetic disorders.