SMPD1 gene variants in patients with β-Thalassemia major.

Published in: Molecular biology reports (2023)

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.

Keyphrases

copy number
sickle cell disease
genome wide
gene expression