KUMJ | VOL. 24 | NO. 2 | ISSUE 95 | APRIL - JUNE, 2026

Hemoglobinopathies in Children with Anemia Presenting to Nepalgunj Medical College
KC R, Acharya P, Deep E, Adhikari M

Abstract:
Background Anemia refers to reduced number of red blood cells or haemoglobin level lower than the standard range for age and sex. It is a major global health issue and is an indicator of poor nutrition, health as well as the social and economic development of a population. Symptoms are lethargy, fatigue, weakness, and shortness of breath. Causes include iron deficiency, vitamin deficiencies, malaria, intestinal helminthes, viral infections, chronic diseases, hemoglobinopathies, hemolysis etc. Hemoglobinopathies are the most prevalent single-gene autosomal recessive disorders which involve disorders in globin chain synthesis, that may either be quantitative (thalassaemias) or qualitative (sickle cell). These disorders can be prevented by proper genetic counselling and screening. Objective To find the prevalence and distribution of hemoglobinopathies among anemic children attending Nepalgunj Medical College. Method The cross-sectional study was carried out in the department of Pediatrics, on 86 children, aged 12 months 15-years, in whom anemia was detected, either on examination or on investigation. Complete blood counts, peripheral blood smear, and Hb-electrophoresis were done. Result Among 86 children, majority were of age group 1-5 years (40.7%), making male : female ratio 1.2:1. The youngest child was of 12 months with average age 8.0 ± 4.8. Commonest morphology was microcytic hypochromic anemia (81.4%). Hemoglobinopathies was seen in 31.39% children, sickle cell disease being most common (16.3%), followed by Beta Thalassemia trait (4.7%), 73.3% children were from tharu family. There was no statistically significant association between ethnicity and hemoglobinopathies as well as sickle cell disease. Conclusion Hemoglobin disorders are also common causes of anemia in children. These were seen in various ethnic groups and were not limited to tharus with consanguineous marriages. Thus, hemoglobinopathies should also be thought-of in non-tharu people with microcytic hypochromic anemia. However, further studies on larger population are needed to determine significant relation between ethnicity and hemoglobinopathies.
Keyword : Anemia, Hemoglobinopathies, Sickle cell anemia, Thalassemia, Tharu