A lack of healthy RBCs
Low amounts of RBCs reduce the amount of oxygen in the body, causing stress on the heart and lungs. This can lead to:
The breakdown of RBCs
RBCs break down and release bilirubin into the bloodstream, causing:
The removal of RBCs
As the spleen removes old or damaged RBCs, they may collect in the organ causing splenomegaly. Working RBCs may also be removed, leading to worsening anemia.
PK deficiency can cause iron overload in the blood. Iron can collect in the tissues of the body and damage the liver and heart. It may also contribute to other symptoms, such as fatigue and abdominal pain.
Everyone with PK deficiency is at risk for iron overload. While iron overload can be caused by frequent blood transfusions, many people with PK deficiency who don’t get regular transfusions can also develop it—it can occur at any age, with any hemoglobin level.
Spleen: An organ that filters blood, helps support the immune system, and removes old or damaged blood cells from the body
Splenomegaly: An enlarged spleen
Aplastic crisis: A parvovirus infection that causes the production of new RBCs to temporarily stop
Gallbladder: An organ that stores and concentrates bile between meals
Gallstones: Small stones that form in the gallbladder
Iron overload: An excess of iron in the body
Ferritin A blood protein that contains iron
Osteopenia: A decrease in bone mass or bone mineral density. In severe cases it can progress to osteoporosis
Osteoporosis: A disease in which the density and strength of bones are reduced
Endocrinopathies: Diseases of the body system that makes hormones
By testing the blood for ferritin (Fe), doctors can see how much iron is building up in the body. It’s important to have a regular monitoring schedule for iron overload. Most hematologists recommend testing ferritin levels once or twice a year.
Iron overload is something to monitor and proactively treat because otherwise you would run into all the complications of iron overload itself, including liver disease, cardiac disease, and endocrinopathies.