Following is transmitted as autosomal dominant disorder-
**Core Concept**
Hereditary spherocytosis is a genetic disorder characterized by the production of abnormal red blood cells that are sphere-shaped instead of being biconcave disk-shaped. This leads to premature destruction of these red blood cells, resulting in anemia. The disorder is caused by mutations in genes encoding proteins of the red blood cell membrane.
**Why the Correct Answer is Right**
Hereditary spherocytosis is transmitted as an autosomal dominant disorder because a single copy of the mutated gene is sufficient to cause the condition. This means that if one parent has the disorder, each child has a 50% chance of inheriting the mutated gene and expressing the disorder. The mutations affect the production of proteins such as spectrin, ankyrin, and band 3, which are essential for maintaining the structural integrity of the red blood cell membrane.
**Why Each Wrong Option is Incorrect**
**Option A:** Albinism is an autosomal recessive disorder, meaning that two copies of the mutated gene (one from each parent) are necessary to express the condition. It is characterized by the absence or reduction of melanin production in the skin, hair, and eyes.
**Option B:** Sickle cell anemia is also an autosomal recessive disorder, caused by a mutation in the HBB gene that codes for hemoglobin. It affects the shape of red blood cells, making them more prone to sickling and premature destruction.
**Option D:** Glycogen storage diseases are a group of disorders caused by mutations in genes involved in glycogen metabolism. They are typically autosomal recessive and affect the storage and breakdown of glycogen in various tissues.
**Clinical Pearl / High-Yield Fact**
Hereditary spherocytosis is often associated with other conditions, such as hemolytic anemia, jaundice, and splenomegaly. A key diagnostic feature is the presence of spherocytes on peripheral blood smear, which can be visualized under a microscope.
**β Correct Answer: C. Hereditary spherocytosis**