Spherocytosis is an inherited blood disease that changes the shape of red blood cells, which are the cells that carry oxygen in the blood. In spherocytosis, normally donut-shaped red blood cells are instead spherical.
These spherical red blood cells are very fragile. They damage easily and when this happens the spleen (the organ responsible for removing damaged red blood cells) targets them for elimination because it detects an abnormality.
Spherocytosis doesn't happen often, but it is the most common type of the blood disorder called hemolytic anemia, which involves destruction of red blood cells. People who originally came from Northern Europe are more likely to develop the disease. Certain genetic defects seem to cause problems in the proteins that help the red blood cells maintain their classic donut shape and make them strong.
For the most part, careful medical management of symptoms helps minimize symptoms and complications until surgery can cure problems permanently.
Children with spherocytosis can have:
Some newborns can develop severe anemia and need blood transfusions.
Tests and Diagnosis
Blood doctors can diagnose spherocytosis by analyzing blood laboratory studies. Ultrasounds can also help detect gallstones or other problems.
Newborns with severe jaundice can be treated with photo-light therapy. When babies have severe anemia, a blood transfusion might be necessary. Folic acid treatment can help babies make new, healthy red blood cells.
Surgery to remove the spleen (a splenectomy) can permanently cure problems, and surgeons can use minimally invasive techniques (laparoscopy) to do so.
Minimally invasive surgery uses smaller "cuts" and causes less scarring and allows patients to recover faster than traditional surgery.
Doctors usually wait until children are at least six years old before removing the spleen. Sometimes, surgeons can remove just part of the spleen and that will be sufficient treatment.