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Background It is difficult to classify a small fraction of α- and β-thalassemia (α- and β-thal) carriers based on their Hb A 2  levels. Here, we report the results of a molecular investigation in a cohort of thalassemia carriers with borderline Hb A 2  levels originated from western Iran. Results The documents of 5956 α- or β-thal carriers were reviewed. The frequency of individuals with borderline Hb A 2  levels in this cohort was 436 (7.32%). A total of 12 different α-thal and 27 different β-thal variants were identified in this study. Conclusions Our data showed that individuals with borderline Hb A 2  are not uncommon in our population. Moreover, preselection of α- and β-thal carriers with borderline Hb A 2  levels based on Hb A 2 , mean corpuscular volume (MCV), and mean cell hemoglobin (MCH) is not advisable in our population. Therefore, it is necessary to investigate both α- and β-globin genes in cases with borderline Hb A 2  levels, especially if the partner is a carrier of β-thal or α 0 -thal.

Problem of borderline hemoglobin A2 levels in an Iranian population with a high prevalence of α- and β-thalassemia carriers