SMPD1 gene variants in patients with β-Thalassemia major


These results imply that the clinical and laboratory findings and some features of disease progression in patients with β-thalassemia major are similar to those of Niemann-Pick disease. They also suggest that SMPD1 gene c.132_143del, p.A46_L49del (c.108GCTGGC[4] (p.38AL[4])) (rs3838786) variant may underlie these clinical findings in patients with β-thalassemia major. © 2023. The Author(s).

Authors Dursun FE, Özen F
Journal Molecular biology reports
Publication Date 2023 Apr;50(4):3355-3363
PubMed 36725747
PubMed Central PMC10042979
DOI 10.1007/s11033-023-08275-x

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