Hereditary spherocytosis 2, 3

Hereditary spherocytosis is a genetic disorder that affects the red blood cells, causing them to assume a spherical shape. This condition is characterized by hemolytic anemia, jaundice, and splenomegaly. There are several types of hereditary spherocytosis, including Hereditary spherocytosis 2 and Hereditary spherocytosis 3.

Hereditary Spherocytosis 2

Hereditary spherocytosis 2 (HS2) is caused by mutations in the ANK1 gene. This gene provides instructions for making a protein called ankyrin, which plays a crucial role in maintaining the shape and flexibility of red blood cells. Mutations in the ANK1 gene disrupt the normal function of ankyrin, leading to the characteristic spherical shape of red blood cells seen in hereditary spherocytosis.

Hereditary Spherocytosis 3

Hereditary spherocytosis 3 (HS3) is caused by mutations in the SLC4A1 gene. This gene provides instructions for making a protein that is involved in the movement of ions across the cell membrane. Mutations in the SLC4A1 gene disrupt the normal function of this protein, leading to the characteristic symptoms of hereditary spherocytosis.

Symptoms

The symptoms of hereditary spherocytosis can vary widely, even among members of the same family. Common symptoms include anemia, jaundice, and an enlarged spleen (splenomegaly). Some people with hereditary spherocytosis may also have gallstones.

Diagnosis

Hereditary spherocytosis is typically diagnosed based on the presence of characteristic symptoms, a family history of the condition, and specialized blood tests. Genetic testing can also be used to identify mutations in the ANK1 or SLC4A1 genes.

Treatment

The treatment of hereditary spherocytosis typically involves managing the symptoms of the condition. This can include treatments for anemia, such as blood transfusions, and treatments for jaundice, such as phototherapy. In some cases, removal of the spleen (splenectomy) may be recommended.

See Also

• Anemia
• Jaundice
• Splenomegaly
• Gallstones