Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening.

Abstract

Background: Congenital CD59 deficiency is a rare genetic disorder marked by chronic hemolysis, recurrent cerebrovascular events, and chronic inflammatory demyelinating polyneuropathy (CIDP). In a specific clinic, 3 siblings from a consanguineously married family were diagnosed with this condition, suggesting a genetic predisposition in their village where endogamous marriages are common.

Materials and methods: Genetic screening was conducted on 71 individuals from the village, including relatives of the diagnosed siblings, to investigate the prevalence and genetic transmission of the disorder.

Results: The screening identified 18 carriers of the genetic mutation and revealed 2 additional siblings of the index patient with the disease. A past case of a cousin with a similar clinical history was also uncovered.

Conclusion: The findings highlight the increased risk of genetic disorders like CD59 deficiency in populations with frequent consanguineous marriages. The study underscores the importance of genetic counseling and preventive measures in such communities to mitigate the risk of congenital disorders.