Congenital hemolytic anemia
Overview
An inherited blood disorder where a metabolic defect causes defects in the red blood cells membranes which leads to their characteristic spherical shape (normal cells are doughnut shaped) and premature destruction.
Symptoms
* Anemia * Asymptomatic in mild cases * Tiredness * Jaundice * Enlarged spleen * Abdominal discomfort * Low red blood cell count * Fever * Headache * Abdominal pain * Anorexia * Vomiting * Lethargy * Nosebleed in children
Causes
This disorder is caused by a defective gene. The defect results in an abnormal red cell membrane so that the affected cells have a smaller surface area for their volume than normal red blood cells. The cells are less resistant to stresses and rupture easily. The anemia varies in its severity. In severe cases the disorder may be detected in early childhood, or in mild cases it may go unnoticed until later in adult life.
Prevention
This is an inherited disorder and may not be preventable. Awareness of risk, such as a family history of the disorder, may allow early diagnosis and treatment.
Treatment
Surgery to remove the spleen (splenectomy) cures the anemia of spherocytosis. Although the abnormal cell defect continues, the red blood cell life span returns to normal. Families with a history of spherocytosis should have their children screened for this disorder. In mild cases discovered in adults, splenectomy may not be necessary.