The Practicality of Family screening for Gaucher disease among first- and second-degree relatives: an effective diagnostic approach in high consanguinity

Gaucher Disease occurs more frequently in the offspring of familial marriages. With a wide variety of presentations, the long list of tests required to confirm GD in addition to those needed to rule out others puts a heavy financial burden on the patients, especially in regions where the majority live below the poverty line. Thus, in this study, we provide a familial screening method in patients whose relatives are confirmed GD cases, assuming that this approach might ease up the process.In this study, ۲۶ patients out of ۲۱۷, whose family members were GD patients and had symptoms associated with GD were selected. Enzyme assay levels using Dried-Blood Samples from ۳ml of samples were measured. Those with low levels of enzyme assay were further tested with GBA gene sequencing to confirm the diagnosis. The results of the sequencing revealed ۵ carriers and ۱ GD patient. Genetic counseling for GD on a personalized level is novel in the region, which all our patients received and responded positively to. In conclusion this process eases the diagnosis and reduces the overall burden of GD while keeping genetic counseling for the patients, which provides better care and opens up the possibilities of a registry system for GD patients and susceptible individuals in low-income countries.

Keywords:

Gaucher’s Disease , family screening , family history , cost-effectiveness , genetic counseling , genome sequencing