Open AccessHemoglobinopathy in pediatric population: A cross sectional study at tertiary care center in Assam
Author(s) -
Uttam Kumar Mondal,
Pritikar Dowerah,
Raktim Mukherjee
Publication year - 2021
Publication title -
indian journal of medical sciences/indian journal of medical sciences (print)
Language(s) - English
Resource type - Journals
eISSN - 1998-3654
pISSN - 0019-5359
DOI - 10.25259/ijms_379_2020
Subject(s) - medicine , hemoglobinopathy , mean corpuscular volume , pediatrics , sickle cell trait , population , thalassemia , asymptomatic , sickle cell anemia , anemia , disease , hematocrit , environmental health
Objectives: The objectives of the study were to find out the prevalence, epidemiology, and clinicohematological profile of hemoglobinopathies. Material and Methods: During the period of September 2010–August 2011, an observational study was done in the Department of Pediatrics, Assam Medical College and Hospital, Dibrugarh. Children (<12 years) suffering from chronic anemia were the study population. Results: Hemoglobinopathies were noted in 72 (35.0%) out of 206 chronic anemia cases, of which sickle cell disease (SCD) was found in 23 cases (11.2%), beta-thalassemia major (BTM) in 21 cases (10.2%), hemoglobin E (HbE)-β thalassemia in 12 cases (5.8%), HbE disease was seen in 10 cases (4.8%), and HbE trait and sickle cell trait (SCT) in 3 cases each. Overall hemoglobinopathy was most commonly seen among teagarden community in Assam. Clinical presentation ranged from completely asymptomatic to congestive heart failure. In majority cases, decreased mean Hb (%) and mean corpuscular volume were found. Anisopoikilocytosis, reticulocytosis, and target cells were frequently noted in peripheral blood smear. Conclusion: Chronic anemia cases should be screened for hemoglobinopathies as these genetic disorders are commonly seen in Assam. SCD and BTM are the major types of hemoglobinopathies. Heterozygous hemoglobinopathies (HbE trait and SCT) had lesser clinical manifestations. As the definitive treatment of hemoglobinopathies is still difficult to avail in this region, genetic counseling should be considered for hemoglobinopathy patients and their families as well, to prevent new cases.