CLINICAL & GENETIC PATTERNS OF GAUCHER DISEASE IN KURDISTAN REGION

ABSTRACT Background: Gaucher disease is a rare autosomal recessive lysosomal storage disease and the most frequent form of the sphingolipidoses owing to lysosomal glucocerebrosidase enzyme activity insufficiency that is attributed to glucosylceramidase beta (GBA1) gene imperfection. As yet, close to 460 pathological variations as mutations have been perceived. This study worked towards assessment of phenotypic characteristic and genetic constitution of patients with Gaucher disease in Kurdistan region. Patients and methods: This cross-sectional study involved 23 patients; all were assessed for β- glucocerebrosidase enzyme level. Patients with reduced enzyme level were further evaluated to verify the diagnosis of Gaucher disease through molecular genetic analysis. Results: Hepatosplenomegaly, anaemia, pallor, and thrombocytopenia were reported in (95.7%) of cases. The mutation c. 1448T>C in homozygous status was ascertained in (34.8%) of Gaucher cases. The genotype c.1246G>A in homozygous status was determined in (30.8%) of cases with Kurdish descent. The difference in the genetic composition of the three ethnic groups was significant (P=0.062). Conclusion: The prime mutation in patients with Gaucher disease in Kurdistan Region was c. 1448T>C. The Gaucher disease type-1- was verified as prevailing phenotype of Gaucher disease.