Genetic Analysis of Gaucher Disease in Pakistani Population and its Diagnostic Comparison.


  • Qurat Abedin NIBD
  • Arshi Naz Liaquat University of Medical & Health Sciences (LUMHS)
  • Shariq ahmed National Institute of Blood Diseases & Bone Marrow Transplantation (NIBD & BMT)
  • Saima Siddiqui National Institute of Blood Diseases & Bone Marrow Transplantation (NIBD & BMT)


?-Glucocerebrosidase, hepatosplenomegaly


Gaucher disease is a rare lysosomal storage disease that is caused by the lack of enzyme ?-Glucocerebrosidase which results in a buildup of an uncatalyzed substrate. Clinical manifestations are mainly hepatosplenomegaly, anemia, thrombocytopenia, and bone problems. It is inherited in an autosomal recessive pattern. GBA gene is responsible for deficient enzyme function and comprises 11 exons and 10 introns. Genetic analysis of Pakistani patients with Gaucher disease that were diagnosed either on bone marrow or enzymatic assays showed distinctive results. Patients who were diagnosed with low enzyme levels were found to have L444P mutation which is most prevalent in our ethnicity. But the patients that were diagnosed on basis of bone marrow morphology did not exhibit any mutation on sequencing. This is an interesting finding that emphasizes the value of enzyme level estimation in all GD-suspected cases.






Letter to the Editor