Background: β-thalassemia minor is the most common inherited hemoglobinopathy worldwide. The defect lies in the beta globin chain synthesis as a result of mutations in beta globin chain genes. Clinical presentation is variable, ranging from normal hemoglobin to severe anemia. Haematologically, classically, there is microcytosis, hypochromia, raised red blood cell count, and elevated HbA2 on hemoglobin studies. But these findings considerably overlap with some added factor, such as, isolated or combine nutritional deficiencies.

Aims: To evaluate the clinical and hematological profile of β-thalassemia minor cases, and, to make a protocol to investigate the patients having microcytic hypochromic anemia for carrier state of hemoglobinopathies especially thalassemia.

Study Design: Descriptive study.

Place and duration of study: Hematology OPD, Faisalabad Institute of Cardiology, Faisalabad from 1^st January 2018 to 31^st December 2020.

Methodology: 3520 patients were referred to our clinic for workup of microcytic hypochromic anemia. CBC and HbA₂ testing was done on all cases. Out of those, 111 fell into our criteria of the diagnosis of β-thalassemia minor.

Results: Ninety one (81.9%) of the patients presented with pallor. Tachycardia and shortness of breath was a complaint in 46 (41.4%) and 30 (27%) respectively. The hemoglobin mean of 9.1 (range 2.7-14.5 g/dL). Red cell distribution width RDW-CV of RBCs was ≤18% in 48.6% of the patients. Mean MCV was 73.3fL (range 54-156), mean RBCs count was 4.75 (range 0.8-7.6). Hemoglobin on HPLC of Biorad Variant II Beta Thalassemia Short Program revealed a raised HbA₂ in 100% of the patients of β-thalassemia minor. Iron deficiency was found to be in 35% of the total diagnosed β-thalassemia minor patients with mean concentration of Ferritin 13.3 ng/mL (range 0.8-80).

Conclusions: All patients with microcytic, hypochromic anemia and raised RBC count should be screened on HPLC for demonstration of HbA2 to exclude β-thalassemia minor. Microcytosis (MCV <76fL), Borderline raised RBC count (RBCs >5x10¹²/L), Borderline high or low RDW (<18), and a raised HbA₂ level are highly consistent with the diagnosis of β-thalassemia minor.

Keywords: β-thalassemia minor, Hemoglobin A2 (HbA2), Microcytic hypochromic Anemia, HPLC, Thalassemia minor