A novel α⁰‐thalassemia deletion in a Brazilian child with Hb H disease [‐‐^(Braz)]

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

“…With the development of new techniques and technologies, an increasing number of novel and rare deletions compromising both alpha genes have been detected, suggesting that their frequencies (and heterogeneity) may be underestimated in populations ( Gilad et al , 2014 ; Brieghel et al , 2015 ; de-la-Cruz-Salcedo et al , 2016 ; Hu et al , 2016 ; Mota et al , 2017 ; Wang et al , 2017 ; Wu et al , 2017 ). Our findings highlight the importance of using MLPA in the characterization of rare deletions, allowing the molecular basis of α-thalassemia to be elucidated when conventional methods fail.…”