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 insufficient production of specific coagulation factors necessary for blood clotting, resulting in excessive bleeding. This deficiency can lead to serious health complications, especially in response to injuries or surgery.

A (Fragile X syndrome) YOUR ANSWER

Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene on the X chromosome, leading to intellectual disabilities and developmental issues. It does not involve any deficiency of 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, resulting in little or no pigmentation in the skin, hair, and eyes. This condition is related to pigmentation rather than blood coagulation and does not involve any deficiency in coagulation factors.

C (Hemophilia) CORRECT

Hemophilia is a genetic disorder caused by mutations affecting the genes responsible for producing coagulation factors, such as factor VIII or factor IX. The deficiency of these factors leads to prolonged bleeding, making hemophilia the only choice that directly relates to coagulation factor deficiencies.

D (Phenylketonuria) YOUR ANSWER

Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, which leads to the accumulation of phenylalanine in the body. While it is a serious genetic disorder, it does not involve coagulation factors or blood clotting mechanisms.

Conclusion

Hemophilia stands out among the listed conditions as the only genetic disease specifically defined by a deficiency in coagulation factors. In contrast, Fragile X syndrome, Albinism, and Phenylketonuria relate to genetic mutations affecting different physiological functions. Understanding these distinctions is crucial for accurate diagnosis and treatment of genetic disorders.

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

Hemophilia is characterized by deficiency of a coagulation factor.

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