Objective: To determine the frequency of beta-thalassemia minor in subjects with no family history of
hemoglobinopathy.
Methods: 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. HbA2 level .3.5% was diagnostic
for beta-thalassemia trait.
Results: 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%).
Conclusion: 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.