Hereditary spherocytosis
Overview
Hereditary spherocytosis is a rare genetic condition characterized by a defect of the red blood cell membrane. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.
Symptoms
- Abnormal shaped red cells
- Anemia due to destruction of red blood cells
- Intermittent jaundice
- Enlarged spleen
- Biliary obstruction
- Reticulocytosis
- Spherocytosis
Causes
Mutations in the ANK1 gene are responsible for approximately half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis each account for a smaller percentage of cases of this condition.
Read more about the ANK1 gene.
See a list of genes associated with hereditary spherocytosis.
Diagnosis
signs and symptoms of Hereditary spherocytosis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Hereditary spherocytosis symptoms.