A patient is diagnosed with a rare coagulation disorder known as combined factor V and factor VIII deficiency. What is the underlying genetic cause of this condition?

A Mutation in the F5 gene
B Mutation in the F8 gene
C Mutation in the LMAN1 gene ✓
D Mutation in the VWF gene

Explanation

Combined factor V and factor VIII deficiency is a rare bleeding disorder caused by mutations in the LMAN1 gene, which encodes a protein involved in the transport of these factors from the endoplasmic reticulum to the Golgi apparatus.

Source

New England Journal of Medicine
Hematology Hematology: Coagulation Disorders Hematology: Coagulation Disorders Hard MEDICAL Confidence: high