Congenital hemolytic anemia is a type of anemia that is present at birth. In this type of anemia, there is a lower than normal number of red blood cells in the blood due to the body destroying its own cells. Red blood cells are disc-shaped cells made by the bone marrow that function to carry oxygen throughout the body. Normally, the spleen removes red blood cells from the blood when the cells are old, damaged or abnormal. The red blood cells are replaced by new ones that are made in the bone marrow. Hemolytic anemia is due to higher than normal rates of red blood cell being removed from circulation and the bone marrow cannot replace them as fast as the body needs them. This results in fewer red blood cells and therefore less oxygen circulating in the body.
Congenital hemolytic anemia can be caused by many conditions including sickle cell anemia, thalassemia, hereditary spherocytosis, hereditary elliptocytosis, and more. The symptoms are similar to those of other anemias and include fatigue (tiredness or weakness), general discomfort, and poor concentration. In addition, jaundice (a yellowing of the skin) can also be seen in hemolytic anemia due to the destruction of the red blood cells. Gallstones and high blood pressure have also been reported. Diagnosis can be made through various blood or urine tests. Treatment varies depending on the severity and the underlying cause, but may include blood transfusions or steroid therapy. This particular form of hemolytic anemia is lifelong and therefore requires ongoing management. If your child has been diagnosed with hemolytic anemia, talk to your child’s doctor and specialists about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members based on the underlying condition and manner of inheritance.