A patient with a coagulation disorder is found to have a mutation in the SERPINC1 gene. Which of the following conditions is most likely to be diagnosed?

A Hemophilia A
B Hemophilia B
C Antithrombin deficiency ✓
D Protein C deficiency

Explanation

The SERPINC1 gene encodes for antithrombin, a protein that plays a critical role in regulating the coagulation cascade. Mutations in this gene can lead to antithrombin deficiency, which increases the risk of thrombosis.

Source

Orphanet Journal of Rare Diseases
Hematology Hematology: Coagulation Disorders Hematology: Coagulation Disorders Hard MEDICAL Confidence: high