Hemolytic anemia (HA) due to glutathione synthetase deficiency (GSD) is a condition in which red blood cells are prematurely destroyed. Red blood cells are the cells that carry oxygen throughout the body. GSD is a disorder that may cause HA – it prevents the creation of glutathione, a molecule that helps prevent damage to cells, including red blood cells.
Symptoms of HA due to GSD are similar to those of anemia and include fatigue, pale skin, jaundice, lightheadedness, and shortness of breath. GSD may also result in an enlarged spleen, acidosis (too much acid in the body), frequent infections, seizures, intellectual disability, and possible problems with coordination. If the condition is moderate to severe, many of these symptoms may be first noticed in infancy.
GSD is caused by a mutation (change) in the GSS gene. Genes are inherited (i.e. passed on in families), and the mutated GSS gene is inherited in an autosomal recessive manner -- this means HA results when you have two mutated copies of the gene.
HA is diagnosed based on medical/family history, a physical exam, and a blood test to assess red blood cells. GSD can also be diagnosed through a urine test, which checks for high levels of 5-oxoproline, a substance whose levels are affected by this condition. Genetic testing may also be used to identify the mutant GSS gene.
There is no treatment for GSD, but its symptoms can be managed. Treatment of symptomatic HA may include blood transfusions and avoiding medicines and foods that cause a rapid breakdown of red blood cells. Vitamin E and vitamin C supplements may be recommended to help neutralize some substances that can damage cells. Genetic counseling may be a good resource for families of those with HA due to GSD.
If you or a family member has been diagnosed with hemolytic anemia due to glutathione synthetase deficiency, speak with your doctor to learn more information.
Description Last Updated: Aug 21, 2018