Definition:
Hereditary spherocytosis is a genetically-transmitted form of spherocytosis, an auto-hemolytic anemia marked by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to hemolysis.
Diagnosis:
In a peripheral blood smear, the abnormally small red blood cells lacking the central pallor as seen in non-hereditary spherocytosis is typically more prominent in hereditary spherocytosis.
Other protein deficiencies result to hereditary elliptocytosis, pyropoikilocytosis or stomatocytosis.
Treatment:
As in non-hereditary spherocytosis, acute symptoms of anemia and hyperbilirubinemia point to treatment with blood transfusions or exchanges and chronic symptoms of anemia and splenomegaly point to dietary supplementation of iron and splenectomy, the surgical removal of the spleen.
Experimental gene therapy exists to treat hereditary spherocytosis in lab mice; however, this treatment has not yet been administered on humans and because of the risks involved in human gene therapy, it may never be.
Symptoms and Signs:
As in non-hereditary spherocytosis, the spleen's hemolysis leads to observational symptoms of fatigue, pallor, and jaundice.
Causes:
An intrinsic genetic defect results to defects in membrane proteins. Hemolysis in HS arises from the interplay of an intact spleen and an intrinsic membrane protein defect that leads to abnormal RBC morphology.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
