Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism.

Background: Thrombophilia is a substantial source of indisposition and mortality in several countries, including Arab populations. Deep venous thrombosis (DVT) with or without pulmonary embolism (PE) is the prevalent clinical manifestation of thrombophilia. While many genetic risk factors for DVT are known, almost all associated with hemostasis, many genetic factors remain unexplained.

Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.

Hemophilia A is an X-linked recessive hemorrhagic disorder caused by variants in the F8 gene. To identify known and novel causative variants in hemophilia A, we have carried out genetic analysis among Saudi patients. Twenty-one patients, who were negative for inv-1/inv-22, were selected for analysis by next generation sequencing, thereafter confirmed by Sanger sequencing.

IMPORTED MALARIA TO MAKKAH DISTRICT, SAUDI ARABIA: IS THERE ANY RISK OF LOCAL TRANSMISSION?

In Makkah, Saudi Arabia, there is an impending risk of imported malaria. This risk comes from the fact that millions of people, in majority from tropical and subtropical countries where malaria is endemic, visit the country to perform Hajj and Umrah every year. Moreover, millions of expatriates from endemic countries come to Makkah for work.