Complications of PK Deficiency | Know PK Deficiency

Complications of
PK deficiency

PK deficiency complications can vary from person to person

Explore the key terms used on this page

Different symptoms and complications can arise due to the effect PK deficiency has on red blood cells (RBCs)

Complications of chronic hemolysis

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:

  • Tiredness and fatigue
  • Headaches
  • Shortness of breath
  • An inability to exercise
  • Cognitive difficulties
  • Aplastic crisis

The breakdown of RBCs
RBCs break down and release bilirubin into the bloodstream, causing:

  • Jaundice and scleral icterus
  • Bilirubin to build up in the gallbladder, creating gallstones

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 an increase in anemia levels.

Complications of iron overload

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.

  • Liver cirrhosis:
    Scarring of the liver
  • Pulmonary hypertension:
    High blood pressure that affects the arteries in the lungs and right side of the heart
  • Osteopenia:
    A decrease in bone mass or bone mineral density. In severe cases, it can lead to osteoporosis
  • Endocrine/hormone problems

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


Cognitive difficulties: Problems associated with memory, language, thinking, and judgment


Aplastic crisis: When the production of new RBCs temporarily stops


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


Osteoporosis: A disease where the density and strength of bones are reduced


Monitoring for iron overload

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.

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