Signs and Symptoms
As in non-hereditary spherocytosis, the spleen destroys the abnormal spherocytes. This hemolysis results directly in varying degrees of anemia (causing pallor and fatigue), hyperbilirubinemia (causing jaundice), and splenomegaly.
Acute cases can threaten to cause hypoxia through anemia and acute kernicterus through hyperbilirubinemia, particularly in newborns. Most cases can be detected soon after birth. An adult with this disease should have their children tested, although the presence of the disease in children is usually noticed soon after birth. Occasionally, the disease will not be noticed until the child is about 4 or 5 years of age.
Chronic symptoms include anemia, increased blood viscosity, and splenomegaly. Furthermore, the detritus of the broken-down blood cells—unconjugated or indirect bilirubin--accumulates in the gallbladder, and can cause pigmented gallstones or "sludge" to develop. In chronic patients, an infection or other illness can cause an increase in the destruction of red blood cells, resulting in the appearance of acute symptoms, a hemolytic crisis. Spherocytosis patients who are heterozygous for a hemochromatosis gene may suffer from iron overload despite the hemochromatosis genes being recessive
Read more about this topic: Hereditary Spherocytosis
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