A 50 year old male is seen in his physician’s office for a routine checkup. His...

A 50 year old male is seen in his physician’s office for a routine checkup. His spleen shows enlargement and his blood work shows hemolytic anemia with bilirubinemia. His wife states the patient has been “off” lately for no apparent reason. He tends to have muscle pulsations in the afternoon to late evening that do not stop until he goes to sleep. Additional blood work is ordered along with a type and screen. His haptoglobin levels are decreased, and his physician orders two units of packed RBCs. His antibody screen results show he has a weakened expression of Kell antigens.

What is the most likely diagnosis?

Expert Solution

The patient is suffering from autoimmune hemolytic anemia. This type of anemia occurs when the patient expresses antibodies to blood group antigens present in its RBCs. The Kell group of antigens (KEL1-KEL24) are highly immunogenic and are present on red blood cells. The Kell glycoprotein is a transmembrane, single-pass protein expressing Kell antigens. It is an endothelin-3-converting enzyme cleaving endothelin-3 and activating it to form a potent vasoconstrictor. IgG antibodies that target Kell antigens can cause hemolysis, thereby reducing levels of RBCs in blood.

Bilirubinemia is the presence of excessive bilirubin in blood. Bilirubin is the reddish yellow pigment that is made when red blood cells degrade. It travels to the liver and is secreted by bile duct and then excreted via stool. When there is excessive hemolysis, bilirubin levels will decline.

When red blood cells are destroyed, haemoglobin is released which binds to haptoglobin protein produced by liver. This haptoglobin-haemoglobin complex is removed by the liver resulting in reduced levels of haptoglobin in blood. Muscle pain and weakness are symptoms of autoimmune hemolytic anemia.

gladiator answered 1 year ago

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