Prevalence and Characteristics of Undiagnosed Hemoglobinopathies among Adolescents in a High Beta Thalassemia Prevalence Area: A Cross-Sectional Study

Abstract

Research on hemoglobinopathies mainly targets school-aged and adult groups, underscoring a lack of studies on adolescents nearing reproductive age. The primary objective was to determine the prevalence of hemoglobinopathies among adolescents who had not been previously screened. Additional objectives were to explore possible associations between undiagnosed hemoglobinopathies, socio-demographic factors, and specific characteristics of these disorders. This cross-sectional observational study included 149 adolescents aged 10 to 24. All participants underwent physical examinations and hematological analyses, with data were analyzed using standard statistical methods. Among the 149 adolescents studied, 8.7% (13 individuals) had hemoglobinopathies, with the majority being Kadazandusun (92.3%). Specific findings included two cases of hemoglobin-E trait and eleven of beta-thalassemia trait. Those with hemoglobinopathies were typically 1.5 years younger than those without. Statistically, they had a higher prevalence of microcytes (61.5% vs. 27.2%, p=0.024) and hypochromic red cells (61.5% vs. 27.9%, p=0.028), increased red cell counts (mean difference of 0.92, p<0.01), decreased hemoglobin levels (mean difference of -1.3, p=0.016), and elevated platelet counts (mean difference of 54.28, p=0.01). Hemoglobin electrophoresis showed higher hemoglobin A2 (mean difference of 9.47%, p=0.004) and fetal hemoglobin levels (mean difference of 1.16%, p=0.009). Even in a highly prevalent area with thalassemia, where the true prevalence of undiagnosed hemoglobinopathies in adolescent age groups was unknown, the actual prevalence was high at 8.7% thus proving the need to increase more screening in this group of apparently healthy adolescents to prevent potential development of new cases of beta thalassemia major.