This study is designed as a cross-sectional observational study aimed at detecting and identifying abnormal haemoglobin variants associated with genetic blood disorders, particularly Alpha-thalassemia, Beta-thalassemia, and Sickle Cell Disease, within an urban population. Hemoglobinopathies are among the most prevalent inherited disorders worldwide, yet there remains limited data on their frequency and distribution in metropolitan areas such as Chattogram, Bangladesh, where genetic diversity, lifestyle factors and high population density may influence disease patterns. The rationale behind this study is to provide much-needed baseline epidemiological information that will facilitate early detection, effective prevention strategies and improved clinical management of these conditions.
The primary objective is to identify abnormal haemoglobin types. In contrast, secondary objectives include determining the prevalence of variants, analyzing demographic and lifestyle associations such as age, sex, socioeconomic background and ethnicity and raising community awareness about the importance of genetic carrier screening. The study population will include individuals aged 1 month to seventy years who have been city residents for at least five years and who provide informed consent. Exclusions will apply to individuals requiring emergency care, those already under treatment for known hemoglobinopathies and those unwilling to participate.
The methodology involves stratified random sampling to ensure the study population is representative. Demographic and clinical data such as family history, anaemia, jaundice and history of transfusions will be collected using a structured questionnaire. Venous blood samples (3 mL in EDTA) will be collected from participants and subjected to laboratory investigations. Initial screening will include Complete Blood Count (CBC) and red cell indices such as MCV, MCH and RDW. At the same time, confirmatory testing will be performed using haemoglobin electrophoresis and high-performance liquid chromatography (HPLC) and Capillary Electrophoresis (CE) to quantify and characterize abnormal haemoglobin variants. All results will be entered into a secure, coded database with strict quality control procedures. Statistical analysis will be conducted using SPSS to determine prevalence, distribution and associations between demographic or lifestyle factors.
The expected outcomes include reliable prevalence data of hemoglobinopathies in the selected population, the proportion of carriers versus affected individuals, and correlations with demographic determinants. These findings will guide future diagnostic strategies, inform genetic counselling programs and strengthen targeted public health interventions. Ethical approval will be obtained from the Institutional Review Board and informed consent will be secured from all participants or guardians in the case of minors. Confidentiality will be maintained throughout and individuals with abnormal results will be referred for clinical management and counselling.
Overall, this study will significantly enhance diagnostic awareness, shape health policy and contribute to prevention strategies through community-level interventions. Despite inherent limitations such as its cross-sectional design, potential recall bias in family history reporting and limited access to advanced molecular testing, the study is expected to provide critical insights into the burden of hemoglobinopathies in an urban Bangladeshi population.
