Which of the following is an X-linked Recessive disorder?
The correct answer here is Hemophilia A. Let me verify. Hemophilia A is indeed caused by a deficiency in clotting factor VIII, which is located on the X chromosome. That fits the X-linked recessive pattern. Other common X-linked recessive disorders include Duchenne muscular dystrophy and red-green color blindness.
Now, the distractors. Let's say the options include other disorders. For example, if an option is Cystic Fibrosis, that's autosomal recessive. Sickle Cell Anemia is also autosomal recessive. If there's a disorder like Turner syndrome, that's a chromosomal abnormality (monosomy X), not X-linked. Another option could be something like Huntington's disease, which is autosomal dominant. Each of these would be incorrect because they don't fit the X-linked recessive pattern.
The clinical pearl here is to remember that X-linked recessive disorders predominantly affect males and are often inherited from carrier females. A key example is Hemophilia A, which is a classic exam question topic. Students should note that females can be affected if they have skewed X-inactivation or if they inherit two affected X chromosomes, but this is rare.
Putting it all together, the explanation should clearly state why Hemophilia A is the correct answer and why the other options don't fit. Each incorrect option should be addressed with a brief explanation of their inheritance patterns. The clinical pearl reinforces the importance of recognizing X-linked recessive disorders in clinical scenarios.
**Core Concept**
X-linked recessive disorders are genetic conditions caused by mutations on the X chromosome. Males (XY) are more frequently affected because they have only one X chromosome, while females (XX) are typically carriers unless they inherit two defective alleles. Classic examples include hemophilia and Duchenne muscular dystrophy.
**Why the Correct Answer is Right**
Hemophilia A is an X-linked recessive disorder caused by mutations in the *F8* gene encoding clotting factor VIII. Affected males exhibit prolonged bleeding due to impaired coagulation, while females are usually asymptomatic carriers. The inheritance pattern aligns with X-linked recessiveness: males express the disorder with a single affected X, and females require two affected Xs to manifest symptoms.
**Why Each Wrong Option is Incorrect**
**Option A:** Cystic fibrosis is autosomal recessive (mutations in *CFTR* gene on chromosome 7).
**Option B:** Sickle cell anemia is autosomal recessive (mutations in *HBB* gene on chromosome 11).
**Option C:** Turner syndrome is a chromosomal aneuploidy (45,X), not X-linked recessive.
**Option D:** Huntington’s disease is autosomal dominant (expansion in *HTT* gene on chromosome 4).
**Clinical Pearl / High-Yield Fact**
Remember: **"Hemophilia and Duchenne"** are high