The Carrier Frequency of α-Globin Gene Triplication in an Iranian Population with Normal or Borderline Hematological Parameters

The −α3.7 rightward deletion is the most frequent α-globin mutation worldwide, while frequencies of the αααanti 3.7 triplication are only sporadically known. Carriers of the αααanti 3.7 triplication show no clinical symptoms or significant hematological changes, but co-inheritance with β-thalassemia (β-thal) has been reported to worsen the clinical and hematological features of the patient as well as the trait. We have screened the α-globin gene rearrangements of 280 individuals with normal hematological indices and 117 persons with borderline hematological parameters. We used multiplex polymerase chain reaction (m-PCR) and multiplex ligation-dependent probe amplification (MLPA) technology to detect triplications and quadruplications. Only the αααanti 3.7 triplication was observed. The carrier frequency in the first group was 2.14% and in the second group 1.7%. No phenotype aggravation was noticed in two carriers of β-thal and the αααanti 3.7 triplication, while a mild β-thalassemia intermedia (β-TI) was ...