What are the most common hereditary hemolytic anemias due to erythrocyte enzyme deficiencies?

Updated: Oct 08, 2018
  • Author: Joseph E Maakaron, MD; Chief Editor: Emmanuel C Besa, MD  more...
  • Print
Answer

In clinical practice, approximately 90% of hereditary RBC enzymatic deficiencies with significant clinical manifestations are either G-6-PD deficiencies or abnormalities of pyruvic kinase. The age at which a hemolytic disorder is detected is not always helpful in determining whether the disorder is hereditary. Although the abnormality is inherited, congenital manifestations may be unusual. An infant with sickle cell anemia or beta thalassemia appears healthy at birth. Clinical manifestations usually do not occur in infants younger than 6 months, because fetal Hb has not been replaced by adult Hb until that age.

Usually, thalassemia minor is not detected until a routine hemogram is performed, and, then, it is often mistaken for iron deficiency anemia because of the microcytosis and hypochromia. Thus, the physician dealing with adult patients must be as aware of these disorders as the pediatrician.

The most commonplace of the hereditary disorders is G-6-PD deficiency, because it occurs in 10% of the African American population living in the United States. In this population, G-6-PD deficiency usually remains undetected until oxidant drugs are administered. Then, it produces a mild to moderate hemolytic anemia that is transient in nature. In white populations of Mediterranean derivation, G-6-PD deficiency can produce a chronic hemolytic anemia without exposure to drugs. Exposure to oxidant drugs can produce lethal hemolysis.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!