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Haem is converted into unconjugated bilirubin then conjugated bilirubin. Conjugated bilirubin is then secreted along with bile into the intestine and is either excreted in faeces as urobilinogen or reabsorbed into blood and transported back to the liver. The varied causes of hyperbilirubinemia are best understood from bilirubin metabolism.
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. [1] Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. [2]
People with GS predominantly have elevated unconjugated bilirubin, while conjugated bilirubin is usually within the normal range or is less than 20% of the total. Levels of bilirubin in GS patients are reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dl) [38] compared to the normal amount of < 20 μM. GS patients have a ratio of unconjugated ...
Sickle cell disease, in which a mutation in the globin gene causes the formation of sickle hemoglobin. [2] This disease is marked by the manifestation of chronic compensated hemolytic anemia, with laboratory findings not limited to unconjugated hyperbilirubinemia but also elevated serum lactate dehydrogenase and low serum haptoglobin. [2]
Dubin–Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase of conjugated bilirubin in the serum. Classically, the condition causes a black liver due to the deposition of a pigment similar to melanin. [2]
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome [1] – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia.
Bilirubin (BR) (from the Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates.This catabolism is a necessary process in the body's clearance of waste products that arise from the destruction of aged or abnormal red blood cells. [3]
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