Your spleen may become enlarged (splenomegaly) as a result of more red blood cells being broken down in the organ. People with Gilbert syndrome often have worsening of their everyday jaundice around the time of puberty. Gilbert syndrome is common (affecting 5–15% of the population), so it is possible for someone to inherit both PK deficiency and Gilbert syndrome. People with Gilbert syndrome have an inherited abnormality (two copies of a non-working gene) that reduces the production of an enzyme involved in the processing of bilirubin in the liver (i.e. This is determined both by the degree of hemolysis and by your ability to metabolize bilirubin, which is genetically determined. The degree of jaundice or scleral icterus is linked to your total unconjugated bilirubin level. Why Do Some People Have More Jaundice than Others? These signs may be apparent all the time or just in times of illness, dehydration or stress.Īlthough removal of the spleen (splenectomy) improves anemia for most people with PK deficiency, it does not resolve the issue of jaundice/scleral icterus, as the hemolytic process continues after splenectomy. You may develop yellowing of the whites of your eyes (scleral icterus) and/or yellowing of your skin (facial jaundice) as a result of your PK deficiency. However, anyone with PK deficiency can develop the complications described below. People with lower hemoglobin levels have a higher likelihood of complications. People with more disruptive PKLR gene mutations are more likely to have complications. the results of your enzyme activity test come from your healthiest or most PK-sufficient red blood cells). One reason for this is that the most enzyme-deficient red blood cells break down before pyruvate kinase enzyme activity can be measured (i.e. To date, studies have found no relationship between the level of pyruvate kinase enzyme activity and the degree of hemolysis. Researchers are currently looking at these relationships. Patients and doctors often wonder if there are any laboratory tests or findings early in childhood that might predict the likelihood of certain symptoms, or indicate whether transfusions or a splenectomy might be needed later in life. Normal hemoglobin levels in healthy individuals vary by age and sex, ranging from 10.5–16 g/dL. The hemolytic anemia caused by PK deficiency can vary from mild to severe, with a typical hemoglobin level of 6–12 g/dL. The symptoms and complications that you or your child experience may be very different from someone else with PK deficiency, as they vary widely between people.
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