Title: Hereditary Spherocytosis - NORD (National Organization for Rare Disorders)
Headings: Rare Disease Database
Rare Disease Database
Hereditary Spherocytosis
Synonyms of Hereditary Spherocytosis
General Discussion
Summary
Signs & Symptoms
Causes
Affected Populations
Diagnosis
Clinical Testing and Work-Up
Standard Therapies
Treatment
Investigational Therapies
Supporting Organizations
References
Years Published

Content: We all have two copies of all our genes. One copy is passed down from mom and one is passed down from dad. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual.