Annals of African medicine · 2026
Spectrum of Hemoglobinopathies and Their Hematological Profiles: A Cross-sectional Study in a Rural Tertiary Care Center.
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Yadav Neha, Kannaujia Sanjay Kumar, Gautam Akanksha
Аннотация
AIM: To evaluate the demographic distribution, prevalence, and hematological profiles of hemoglobinopathies using a BIO-RAD D-10 Dual Program high-performance liquid chromatography (HPLC) analyzer and correlate them with red cell indices in a tertiary care population.
MATERIALS AND METHODS: This cross-sectional retrospective study included 392 patients who underwent hemoglobin (Hb) analysis via HPLC. Data on age, gender, HPLC findings, red cell indices (Hb, mean corpuscular volume, mean corpuscular Hb, mean corpuscular Hb concentration, red blood cell count, and red cell distribution width), and Hb fractions (HbA, HbA2, HbF, and variant Hbs) were collected and analyzed.
RESULTS: Of the 392 patients, 282 (72%) were female and 110 (28%) were male. The most affected age group was 21-30 years (72.5%). Hemoglobinopathies were diagnosed in 54 (13.77%) cases: beta-thalassemia trait (BTT; 38 cases, 70.37%), thalassemia major (TM; 13 cases, 24.07%), δβ-thalassemia trait (1 case, 1.85%), and sickle cell trait (SCT; 2 cases, 3.70%). BTT cases showed mild anemia with elevated HbA2 (mean 5.8%). TM cases had severe anemia with markedly raised HbF (mean 84.6%). SCT cases demonstrated a significant HbS peak (29.9%) with near-normal red cell indices, while the δβ-thalassemia trait case showed mild anemia with moderately elevated HbF.
CONCLUSION: Hemoglobinopathies, particularly thalassemia trait, are prevalent in young adults and females. HPLC is a reliable diagnostic modality for identifying Hb variants. Routine screening, especially in reproductive-age females, is essential for early diagnosis and genetic counseling to prevent transmission.
MATERIALS AND METHODS: This cross-sectional retrospective study included 392 patients who underwent hemoglobin (Hb) analysis via HPLC. Data on age, gender, HPLC findings, red cell indices (Hb, mean corpuscular volume, mean corpuscular Hb, mean corpuscular Hb concentration, red blood cell count, and red cell distribution width), and Hb fractions (HbA, HbA2, HbF, and variant Hbs) were collected and analyzed.
RESULTS: Of the 392 patients, 282 (72%) were female and 110 (28%) were male. The most affected age group was 21-30 years (72.5%). Hemoglobinopathies were diagnosed in 54 (13.77%) cases: beta-thalassemia trait (BTT; 38 cases, 70.37%), thalassemia major (TM; 13 cases, 24.07%), δβ-thalassemia trait (1 case, 1.85%), and sickle cell trait (SCT; 2 cases, 3.70%). BTT cases showed mild anemia with elevated HbA2 (mean 5.8%). TM cases had severe anemia with markedly raised HbF (mean 84.6%). SCT cases demonstrated a significant HbS peak (29.9%) with near-normal red cell indices, while the δβ-thalassemia trait case showed mild anemia with moderately elevated HbF.
CONCLUSION: Hemoglobinopathies, particularly thalassemia trait, are prevalent in young adults and females. HPLC is a reliable diagnostic modality for identifying Hb variants. Routine screening, especially in reproductive-age females, is essential for early diagnosis and genetic counseling to prevent transmission.