Which of the following disorders results from a deficiency of factor VIII?
A. Sickle cell disease
B. Christmas disease
C. Hemophilia A
D. Hemophilia B
Correct Answer: C. Hemophilia A
Hemophilia A results from a deficiency of factor VIII. A hereditary hemorrhagic disorder resulting from congenital deficit or scarcity of factor VIII, hemophilia A, which is known as classical hemophilia, manifests as protracted and excessive bleeding either spontaneously or secondary to trauma. Hemophilia A’s X-linked trait manifests as a congenital absence or decrease in plasma clotting Factor VIII, a pro-coagulation cofactor and robust initiator of thrombin that is essential for the generation of adequate amounts of fibrin to form a platelet-fibrin plug at sites of endothelial disruption.
Option A: Sickle cell disease is caused by a defective hemoglobin molecule. Sickle cell disease (SCD) is a multisystem disorder and the most common genetic disease in the United States, affecting 1 in 500 African Americans. About 1 in 12 African Americans carry the autosomal recessive mutation, and approximately 300,000 infants are born with sickle cell anemia annually.
Option B: Christmas disease, also called hemophilia B, results in a factor IX deficiency. Hemophilia B, also known as Christmas disease, is the second most common type of hemophilia. The disease was named after Stephen Christmas, who was the first person diagnosed with the condition in 1952. The disorder was ubiquitous in the royal families of Spain, Germany, and Russia.
Option D: Hemophilia B is an inherited disease, mainly caused by the deficiency of factor IX. It mostly affects males, but carrier females may show some signs of bleeding. One of the most famous families with this condition was that of Queen Victoria of England; thus, it is known as the “Royal disease.” It is a hereditary hemorrhagic disorder resulting from congenital deficit or scarcity of factor IX, which manifests either spontaneously or after traumatic events.
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