Carrier detection for beta-thalassemia trait in general Pakistani population: a way forward

To determine the frequency of beta-thalassemia minor in subjects with no family history of hemoglobinopathy.

Subjects were self-recruited on thalassemia day by advertisement through media. Those with indexed cases of beta-thalassemia major were excluded. Participants were interviewed regarding their marital status and screening of partners. Complete blood counts and peripheral smear review were performed on EDTA samples. Hemoglobin (Hb) electrophoresis was performed in cases with mean corpuscular volume (MCV) <76 fl, mean corpuscular Hb (MCH) <27 pg. HbA(2) level >3.5% was diagnostic for beta-thalassemia trait.

Out of 192 subjects, 11 were excluded based on family history of beta-thalassemia major and minor. Remaining 181 subjects (115 males and 66 females) were enrolled for further analysis. Median age was 27±9.7 years and included 101 married and 80 unmarried individuals. The mean Hb was 12.6 g/dl. MCV <76 fl and MCH <27 pg was seen in 29 subjects. Diagnosis of beta-thalassemia trait was made in 10 subjects (5.5%).

Though the carrier rate quoted is similar to previous studies, targeting families with indexed cases for screening might result in failure of carrier detection, since a large population would be overlooked. Implementation of national screening program is the need of the hour in Pakistan to evaluate the true burden of beta-thalassemia.