In:
Molecular Biology Reports, Springer Science and Business Media LLC, Vol. 50, No. 4 ( 2023-04), p. 3355-3363
Abstract:
β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 ( SMPD1 ) gene variants on the clinical and laboratory findings in patients with β-thalassemia major. Methods and results This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase, leukocyte acid sphingomyelinase, liver enzymes, ferritin, hemogram, biochemical parameters, SMPD1 gene variant analysis, cardiac T2* MRI, and liver R2 MRI were assessed in all patients. The SMPD1 gene c.132_143del, p.A46_L49del (c.108GCTGGC [4] (p.38AL [4] )) (rs3838786) variant was detected in 9 of 45 (20.0%) patients. Plasma chitotriosidase, ferritin, acetyl aminotransferase, and alanine aminotransferase levels were significantly higher in patients with the gene variant than in those without (p 〈 0.05). Leukocyte acid sphingomyelinase levels were significantly lower in patients with the gene variant than in those without (p 〈 0.05). Conclusion 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.
Type of Medium:
Online Resource
ISSN:
0301-4851
,
1573-4978
DOI:
10.1007/s11033-023-08275-x
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2023
detail.hit.zdb_id:
1478217-0
SSG:
12
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