Monitoring PK Deficiency
Know the tests for monitoring your complications
Regular evaluations can help make sure you’re getting the right care. Many assessments to monitor PK deficiency are done on a yearly basis, but some need to be done more often based on transfusion frequency, the need for chelation therapy, and discoveries from previous tests.
Explore the key terms used on this page
Testing for complications
Gallstones
Monitored by ultrasound if there is new or worsening abdominal pain, or if bilirubin levels are consistently high.
Iron damage to the heart or liver
Monitored by a yearly T2* MRI scan. Patients who receive regular transfusions, or who need chelation therapy, may need to be assessed more frequently.
Osteopenia and osteoporosis
A DXA should be done in early adulthood. Results of the scan determine how often the test should be repeated.
Pulmonary hypertension
An echocardiogram should be done by age 30. Doctors determine if the test needs to be repeated based on what the picture shows.
Extramedullary hematopoiesis
A visual exam is performed regularly, with further testing if there is unexplained swelling or symptoms that indicate signs of nerve damage, such as numbness, tingling, burning, or shooting pain.
Annual blood tests for:
- Degree of anemia (hemoglobin levels)
- Reticulocyte count (newly developing red blood cells)
- Iron overload (ferritin levels)
- Vitamin D levels (to help assess bone health)
- Hormone changes (to check for diabetes, thyroid problems, or sex hormone levels)
- Viruses, such as HIV, and hepatitis A, B, and C (for people who receive regular transfusions)
Help build a monitoring schedule with your doctor. Download and print our monitoring guide.
Extramedullary hematopoiesis: Blood cell production occurring outside of the bone marrow, in organs such as the liver or spleen
DXA (or DEXA) scan: An X-ray performed to assess bone strength
MRI: A scan performed to look for iron overload in the liver and heart
Abdominal ultrasound: A test performed to look for gallstones or other complications involving the gallbladder
Echocardiogram (echo): A test assessing heart function and signs of pulmonary hypertension
DID YOU KNOW?
The need and timing of tests varies for everyone. Talk with your doctor about each test to determine a monitoring plan.
Still have questions about PK deficiency?
This Fast Facts brochure may help you
find some answers