Hereditary spherocytosis 1

Hereditary spherocytosis 1 (HS1) is a genetic disorder that affects the red blood cells, causing them to assume a spherical shape. This condition is characterized by anemia, jaundice, and an enlarged spleen (splenomegaly). HS1 is caused by mutations in the ANK1 gene and is inherited in an autosomal dominant manner.

Symptoms and Signs

The symptoms of HS1 can vary greatly among affected individuals. Common symptoms include fatigue, pallor, and jaundice. Some individuals may also have an enlarged spleen or gallstones. In severe cases, individuals may experience life-threatening hemolytic crises.

Causes

HS1 is caused by mutations in the ANK1 gene. This gene provides instructions for making a protein that is involved in maintaining the shape and flexibility of red blood cells. Mutations in the ANK1 gene disrupt the normal function of this protein, causing red blood cells to become spherical and less flexible. These abnormal cells are more likely to be broken down in the spleen, leading to the symptoms of HS1.

Diagnosis

The diagnosis of HS1 is based on the clinical symptoms, a complete blood count, and specialized laboratory tests. Genetic testing can confirm the diagnosis.

Treatment

The treatment of HS1 is aimed at managing the symptoms and preventing complications. This may include folic acid supplementation, blood transfusions, and in some cases, removal of the spleen (splenectomy).

Prognosis

With appropriate management, individuals with HS1 can lead a normal life. However, they may have an increased risk of developing gallstones and other complications.

See Also

• Hereditary elliptocytosis
• Hereditary stomatocytosis
• Spherocytosis

References

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