A 3-year-old boy with pale skin is suspected to have hereditary spherocytosis. What genetic mutation is most likely present?

Hereditary spherocytosis is a genetic disorder characterized by the presence of spherically shaped red blood cells, which are prone to hemolysis. The underlying cause of this condition is typically related to mutations in the genes that code for proteins involved in maintaining the structural integrity of the red blood cell membrane.

The ankyrin gene encodes a protein that connects the plasma membrane of red blood cells to the cytoskeleton, playing a crucial role in maintaining the biconcave shape of these cells. Mutations in the ankyrin gene lead to instability in the cytoskeletal structure of red blood cells, resulting in the formation of spherocytes. This specific mutation is commonly linked to hereditary spherocytosis, making it a primary suspect.

The heterozygous mutation refers to the presence of one mutated copy of the gene, which is usually sufficient to cause the disorder in autosomal dominant conditions like hereditary spherocytosis. If a child presents with symptoms of this condition, such as pallor due to anemia and jaundice due to hemolysis, it would be consistent with having a heterozygous mutation in the ankyrin gene, thus establishing a likely genetic cause for the observed phenotype.

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