Spectrum of Hemoglobinopathies in Microcytic Hypochromic Anemia: A Cross-Sectional Study From Western India

Hemoglobinopathies are common genetic disorders with high prevalence in India. This study aimed to determine the spectrum of hemoglobinopathies among patients with microcytic hypochromic anemia at a tertiary care center in Jaipur, Western India.

This cross-sectional study enrolled 150 patients with microcytic hypochromic anemia (mean corpuscular volume (MCV) <80 fL, mean corpuscular hemoglobin (MCH) <27 pg) and clinically suspected hemoglobinopathy. Patients with a recent blood transfusion were excluded. Venous blood samples were analyzed using complete blood count and high-performance liquid chromatography (HPLC). Statistical analysis was performed using chi-square tests.

Among 150 patients, 63 (42.0%) were diagnosed with the beta-thalassemia trait, making it the most common abnormality. A normal HPLC pattern was observed in 50 (33.3%) patients. Beta-thalassemia major was diagnosed in 12 (8.0%) patients, followed by hemoglobin S (HbS) trait in seven (4.7%), hemoglobin E (HbE) homozygous in six (4.0%), hereditary persistence of fetal hemoglobin (HPFH) in four (2.7%), and other rare variants in eight (5.3%) patients. Female predominance was observed among abnormal cases (62.0% females vs. 38.0% males; female: male ratio 1.6:1; χ²=5.76, p=0.016). The highest proportion of cases was observed in the <10 years age group (30.0%), followed by the 21-30 years age group (22.0%) (χ²=28.43, p=0.005).

Beta-thalassemia trait is the predominant hemoglobinopathy in this region. High prevalence in children under 10 years and females of reproductive age underscores the need for targeted screening programs in schools and antenatal clinics.