Factor VIII deficiency is primarily associated with which type of inheritance?

Study for the NBME Form 14 Step 2 Test with comprehensive questions and detailed explanations. Enhance your test-taking skills and ace your exam with confidence!

Factor VIII deficiency, which leads to hemophilia A, is primarily associated with X-linked recessive inheritance. This means that the gene responsible for Factor VIII production is located on the X chromosome. Males, having one X and one Y chromosome, are more severely affected by this condition because they have only one copy of the X chromosome. If that X chromosome carries the mutation affecting Factor VIII, they will manifest symptoms of hemophilia.

In contrast, females have two X chromosomes, so even if one X chromosome carries the mutation, the presence of a second normal X can often compensate for the loss of function, resulting in milder symptoms or even being asymptomatic carriers. This pattern of inheritance is a hallmark of many X-linked conditions, and it explains why hemophilia A predominantly affects males while females can serve as carriers, transmitting the gene to their offspring.

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