Which of the following genetic diseases is characterized by deficiency of a coagulation factor?

Rationale

Hemophilia is characterized by deficiency of a coagulation factor.

Hemophilia is a genetic disorder that leads to impaired blood clotting due to the deficiency of specific coagulation factors, such as factor VIII or factor IX. This deficiency results in prolonged bleeding and can lead to serious health complications.

A (Fragile X syndrome) YOUR ANSWER

Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene, leading to intellectual disabilities and developmental issues. It does not involve a deficiency in coagulation factors, making it unrelated to blood clotting disorders.

B (Albinism) YOUR ANSWER

Albinism is a genetic condition characterized by a lack of melanin production in the body, affecting skin, hair, and eye color. It is not associated with coagulation factors or bleeding disorders, as it pertains solely to pigmentation.

C (Hemophilia) CORRECT

Hemophilia is indeed associated with a deficiency of coagulation factors, specifically factors VIII or IX. This leads to the inability to form blood clots effectively, resulting in excessive bleeding episodes. As such, it is the only option that directly relates to the question regarding coagulation factor deficiency.

D (Phenylketonuria) YOUR ANSWER

Phenylketonuria (PKU) is a metabolic disorder caused by the deficiency of the enzyme phenylalanine hydroxylase, which leads to the accumulation of phenylalanine in the body. It primarily affects metabolism and does not involve coagulation factors or blood clotting processes.

Conclusion

Among the choices provided, hemophilia uniquely stands out as a genetic disease characterized by the deficiency of coagulation factors, leading to impaired blood clotting. The other options—Fragile X syndrome, Albinism, and Phenylketonuria—are unrelated to coagulation disorders and focus on other genetic aspects, highlighting the specificity of hemophilia in the context of blood coagulation.

Which of the following genetic diseases is characterized by deficiency of a coagulation factor?

Hemophilia is characterized by deficiency of a coagulation factor.

Related Questions

Related Quizzes

How familiar were you with this question?

Report an Issue

Rate this Practice Test