Hereditary spherocytosis is a genetic disease that causes your red blood cells (RBCs) to change shape and become less flexible. These changes hinder the cells’ ability to travel through your bloodstream and can lead to anemia, jaundice and an enlarged spleen.
At Seattle Cancer Care Alliance (SCCA), our team of experts provides comprehensive diagnostic and medical care for people with hereditary spherocytosis.
Request an appointment
What is hereditary spherocytosis?
Hereditary spherocytosis is caused by changes in genes that control important proteins in and on the membranes around your RBCs. The mutated genes give instructions that weaken the cell membranes, changing your RBCs from flat discs to rounder spheres.
The new shape makes it hard for your RBCs to pass from large arteries into narrow blood vessels, especially tiny capillaries. Your spleen captures and destroys the misshaped cells. As a result, you have fewer red blood cells in circulation and you may develop anemia.
Symptoms and diagnosis of hereditary spherocytosis
Hereditary spherocytosis can be mild, moderate or severe. Most people with the condition develop hemolytic anemia, and people with the moderate to severe forms can experience jaundice (yellowing of the skin), gallstones and an enlarged spleen (splenomegaly).
Doctors diagnose hereditary spherocytosis by testing your blood to check the number, shape and maturity of your RBCs. If more information is needed, your doctor may order a flow cytometry analysis of your RBCs or an osmotic fragility test to measure the fragility of the cell membranes.
Hereditary spherocytosis treatment
Since there is currently no known cure for hereditary spherocytosis, doctors treat the condition by focusing on ways to limit symptoms and to ensure your body makes enough red blood cells. SCCA’s team of doctors provides a comprehensive range of treatment options.
Anemia, the most common symptom of the condition in its mildest form, is often treated with folic acid supplements that facilitate RBC production. For more severe anemia, you may need blood transfusions. People with a very enlarged spleen may need surgery to remove their spleen (splenectomy).