All the following are Autosomal Dominant EXCEPT
**Core Concept**
Autosomal Dominant (AD) disorders are characterized by the presence of a single copy of a mutated gene, which is sufficient to cause the condition. This means that a single copy of the mutated gene from either parent can lead to the expression of the disorder. In contrast, Autosomal Recessive (AR) disorders require two copies of the mutated gene (one from each parent) to manifest.
**Why the Correct Answer is Right**
Autosomal Dominant disorders are often caused by mutations in genes that are involved in cell growth, differentiation, and regulation. These genes can be involved in various pathways, including those that regulate protein function, gene expression, and DNA repair. For example, mutations in the BRCA1 and BRCA2 genes can lead to an increased risk of breast and ovarian cancer. In contrast, conditions like Sickle Cell Anemia and Cystic Fibrosis are Autosomal Recessive, meaning they require two copies of the mutated gene to manifest.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not specify the condition being referred to. However, if it refers to a specific Autosomal Dominant disorder, it would be incorrect if that disorder is actually Autosomal Recessive.
**Option B:** This option is incorrect because it represents an Autosomal Recessive disorder. Sickle Cell Anemia is caused by a mutation in the HBB gene, which codes for hemoglobin. Individuals with one copy of the mutated gene (heterozygous) are carriers, while those with two copies (homozygous) express the disease.
**Option C:** This option is incorrect because it represents an Autosomal Recessive disorder. Cystic Fibrosis is caused by mutations in the CFTR gene, which codes for a chloride channel. Individuals with one copy of the mutated gene are carriers, while those with two copies express the disease.
**Option D:** This option is incorrect because it represents an X-linked disorder. Hemophilia A is caused by mutations in the F8 gene, which codes for factor VIII. Since it is X-linked, it predominantly affects males, who have only one X chromosome.
**Clinical Pearl / High-Yield Fact**
When considering the inheritance pattern of a disorder, remember that Autosomal Dominant disorders often have an earlier age of onset and more severe symptoms than Autosomal Recessive disorders.
**Correct Answer:** B. Sickle Cell Anemia is an Autosomal Recessive disorder.