Prevalence and Hematological Characteristics of Hemoglobinopathies

Hemoglobinopathies are among the most common inherited disorders worldwide, caused by mutations in globin genes affecting hemoglobin synthesis, structure, and function. They are highly prevalent in South Asia, particularly in Pakistan, where beta-thalassemia is the most frequent single-gene disorder. Despite this, there is limited epidemiological data from Khyber Pakhtunkhwa (KPK), especially in Mardan, where consanguineous marriages are common and contribute to disease burden. This descriptive cross-sectional study was conducted over a two-year period (January 2021 to January 2023) at the hematology department of Mardan Medical Complex, Pakistan. All patients referred for hemoglobinopathy testing were included. Blood samples (3 mL EDTA) were collected and analyzed for complete blood counts (hemoglobin, RBC count, hematocrit, MCV, MCH, MCHC) using Sysmex XN1000, and hemoglobin variants were identified using High Performance Liquid Chromatography (Bio-Rad D-10 analyzer). A sickling test was performed in cases with abnormal S-window chromatogram findings. A total of 839 participants were analyzed. Geographic distribution was showed for patients from different nearby regions . This study provides the first comprehensive regional overview of hemoglobinopathies in Mardan, KPK. The findings of our study will emphasize the need for early detection, genetic counseling, and preventive public health strategies, particularly in communities with high rates of consanguinity. These results might support the development of targeted screening and awareness programs to reduce the burden of hemoglobinopathies in Pakistan.