Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 22 peer-reviewed journal articles Updated
Hematology · Pyruvate Kinase Deficiency

Living with PKD: Long-Term Monitoring & Complications

At a Glance

Pyruvate Kinase Deficiency (PKD) requires lifelong monitoring beyond anemia management. Patients face high risks for organ iron overload—even without blood transfusions—as well as gallstones, bone thinning, and post-splenectomy complications. Regular MRI and ultrasound screenings are essential.

Managing Pyruvate Kinase Deficiency (PKD) is a lifelong journey that goes beyond just treating anemia. Because PKD affects how red blood cells are made and destroyed, it can impact several other systems in the body over time [1][2]. Understanding these long-term risks allows you and your care team to catch complications early, when they are easiest to manage [3][4].

The “Hidden” Risk: Iron Overload

One of the most important things to know about PKD is that iron overload—having too much iron in the body—can happen to anyone with the condition, even those who have never had a blood transfusion [3][5].

This happens because of a process called ineffective erythropoiesis [6][7]. When the body senses it is low on red blood cells, it tries to produce more. In PKD, this process is inefficient. This signals the body to absorb much more iron from food than it normally would [7][8].

  • The Risk: Excess iron can build up in the liver and heart, leading to organ damage [9][10].
  • Crucial Warning: Never take over-the-counter iron supplements without your hematologist’s direct instruction. Standard advice from non-specialists to “take iron for anemia” is dangerous for PKD patients because of this severe overload risk [5].
  • The Monitoring: While blood tests (ferritin) provide some information, the gold standard is an MRI T2*. This specialized scan can precisely measure the amount of iron stored in the liver and heart [11][12].

Gallstones (Cholelithiasis)

Gallstones are extremely common in PKD, even in young children [3][4]. They form because the constant breakdown of red blood cells produces a substance called bilirubin. When bilirubin levels are high, it can crystallize into stones in the gallbladder [13].

  • The Monitoring: Regular abdominal ultrasounds are used to check for stones [3].
  • The Action: If stones cause pain or infection, the gallbladder may need to be surgically removed (cholecystectomy) [14].

Bone Health

Chronic hemolysis can take a toll on the bones. To compensate for the anemia, the bone marrow (where blood is made) expands significantly [6]. This expansion can thin the outer layer of the bones, leading to:

  • Osteopenia (low bone density) or Osteoporosis (weak, brittle bones) [3][15].
  • Monitoring: Adult patients should have their bone density checked periodically using a DEXA scan [16][17].

Life After Splenectomy

While removing the spleen can improve anemia, it introduces unique long-term risks that require lifelong vigilance [18][16].

  • Blood Clots (Thrombosis): Splenectomized patients have a higher risk of developing blood clots in the veins [18][19].
  • Pulmonary Hypertension: This is a type of high blood pressure in the lungs that can occur years after a splenectomy [19][20].
  • Infection: Because the spleen filters bacteria, patients must stay up to date on specific vaccinations. Young children or those immediately recovering from surgery often take daily preventive antibiotics, though this may not be a lifelong requirement for all adult patients [21][22].

Long-Term Surveillance Checklist

Use this list to track the monitoring recommended by many hematology experts [1][2][16]:

  1. Iron Levels: Blood tests (Ferritin/Transferrin Saturation) every 3–6 months [10].
  2. Organ Iron: MRI T2* of the liver and heart (starting in late childhood/early adolescence, then every 1–2 years depending on levels) [11].
  3. Gallstones: Abdominal ultrasound (annually or as needed based on symptoms) [3].
  4. Bone Health: DEXA scan (starting in early adulthood) [16].
  5. Lung Health (Post-Splenectomy): Baseline and periodic echocardiograms to check for signs of pulmonary hypertension [20].
  6. Vaccinations: Lifelong adherence to the immunization schedule for asplenic (no spleen) patients [21].

Common questions in this guide

Why is iron overload a risk for PKD patients who don't get blood transfusions?
In PKD, the body senses a low red blood cell count and tries to produce more, a process that is often inefficient. This signals the digestive system to absorb excessive amounts of iron from food. Over time, this excess iron can dangerously build up in organs like the liver and heart.
What is the best way to monitor iron levels in Pyruvate Kinase Deficiency?
While standard blood tests like ferritin provide some clues, the gold standard for monitoring iron in PKD is an MRI T2* scan. This specialized imaging test accurately measures the exact amount of iron stored in your liver and heart to detect dangerous buildup early.
Why are gallstones so common in people with PKD?
Gallstones form because the constant breakdown of red blood cells releases high levels of bilirubin into the body. When this bilirubin concentrates in the gallbladder, it can crystallize and form stones. Doctors recommend regular abdominal ultrasounds to catch these stones before they cause pain.
Can Pyruvate Kinase Deficiency affect bone health?
Yes, chronic anemia causes the bone marrow to expand as it works harder to produce new red blood cells. This expansion can thin the outer layers of the bones, leading to decreased bone density like osteopenia or osteoporosis. Adults with PKD should get periodic DEXA scans to monitor their bone strength.
What are the long-term health risks after having my spleen removed for PKD?
While removing the spleen can improve anemia, it increases your lifelong risk for certain bacterial infections and blood clots in the veins. Years after the surgery, it can also lead to pulmonary hypertension, which is a specific type of high blood pressure in the lungs.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Since I (or my child) am not receiving regular transfusions, why is iron overload still a risk, and how often should we check my iron levels?
  2. 2.At what age should we perform our first baseline MRI T2* of the liver and heart to check for iron?
  3. 3.How frequently do you recommend an abdominal ultrasound to look for gallstones?
  4. 4.Can you explain how PKD affects bone density, and should we be doing DEXA scans to monitor for osteoporosis?
  5. 5.Now that I've had a splenectomy, what specific signs of blood clots or pulmonary hypertension should I be looking for?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (22)
  1. 1

    The variable manifestations of disease in pyruvate kinase deficiency and their management.

    Al-Samkari H, Van Beers EJ, Kuo KHM, et al.

    Haematologica 2020; (105(9)):2229-2239 doi:10.3324/haematol.2019.240846.

    PMID: 33054048
  2. 2

    [Expert consensus on the diagnosis and treatment of pyruvate kinase deficiency].

    Zhonghua yi xue za zhi 2024; (104(45)):4118-4124 doi:10.3760/cma.j.cn112137-20240430-01012.

    PMID: 39622742
  3. 3

    Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry.

    Glenthøj A, Grace RF, Lander C, et al.

    British journal of haematology 2024; (205(2)):613-623 doi:10.1111/bjh.19601.

    PMID: 39118415
  4. 4

    Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

    Grace RF, Bianchi P, van Beers EJ, et al.

    Blood 2018; (131(20)):2183-2192 doi:10.1182/blood-2017-10-810796.

    PMID: 29549173
  5. 5

    Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency.

    van Beers EJ, Al-Samkari H, Grace RF, et al.

    Blood advances 2024; (8(10)):2433-2441 doi:10.1182/bloodadvances.2023011743.

    PMID: 38330179
  6. 6

    Hereditary disorders of ineffective erythropoiesis.

    King RA, Khoriaty R

    Blood cells, molecules & diseases 2025; (111()):102910 doi:10.1016/j.bcmd.2025.102910.

    PMID: 39938185
  7. 7

    Hepcidin and Anemia: A Tight Relationship.

    Pagani A, Nai A, Silvestri L, Camaschella C

    Frontiers in physiology 2019; (10()):1294 doi:10.3389/fphys.2019.01294.

    PMID: 31649559
  8. 8

    The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.

    Grootendorst S, de Wilde J, van Dooijeweert B, et al.

    International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22042204.

    PMID: 33672223
  9. 9

    Successful Liver Transplantation for Adolescent Patient With Pyruvate Kinase Deficiency-induced Cirrhosis.

    Rinehardt HN, Villella AD, Milanes-Yearsley M, et al.

    Journal of pediatric hematology/oncology 2021; (43(4)):e605-e607 doi:10.1097/MPH.0000000000001876.

    PMID: 32590423
  10. 10

    Red Blood Cell Enzyme Disorders.

    Grace RF, Glader B

    Pediatric clinics of North America 2018; (65(3)):579-595 doi:10.1016/j.pcl.2018.02.005.

    PMID: 29803284
  11. 11

    Iron overload disorders.

    Hsu CC, Senussi NH, Fertrin KY, Kowdley KV

    Hepatology communications 2022; (6(8)):1842-1854 doi:10.1002/hep4.2012.

    PMID: 35699322
  12. 12

    Congenital Hemolytic Anemias: Is There a Role for the Immune System?

    Zaninoni A, Fermo E, Vercellati C, et al.

    Frontiers in immunology 2020; (11()):1309 doi:10.3389/fimmu.2020.01309.

    PMID: 32655575
  13. 13

    Pyruvate kinase deficiency in children.

    Chonat S, Eber SW, Holzhauer S, et al.

    Pediatric blood & cancer 2021; (68(9)):e29148 doi:10.1002/pbc.29148.

    PMID: 34125488
  14. 14

    Bacterial Cholangitis in Autosomal Dominant Polycystic Kidney and Liver Disease.

    Martin WP, Vaughan LE, Yoshida K, et al.

    Mayo Clinic proceedings. Innovations, quality & outcomes 2019; (3(2)):149-159 doi:10.1016/j.mayocpiqo.2019.03.004.

    PMID: 31193902
  15. 15

    Comorbidities and complications in adults with pyruvate kinase deficiency.

    Boscoe AN, Yan Y, Hedgeman E, et al.

    European journal of haematology 2021; (106(4)):484-492 doi:10.1111/ejh.13572.

    PMID: 33370479
  16. 16

    Clinical and Demographic Characteristics of Pyruvate Kinase Deficiency Patients: A Comprehensive Case Series Analysis.

    Nasiri A, Haroon A, Alzahrani H

    Cureus 2024; (16(5)):e60035 doi:10.7759/cureus.60035.

    PMID: 38736761
  17. 17

    Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency.

    Al-Samkari H, Grace RF, Glenthøj A, et al.

    American journal of hematology 2023; (98(3)):E57-E60 doi:10.1002/ajh.26830.

    PMID: 36594181
  18. 18

    Splenectomy and emerging novel treatments in rare inherited hemolytic anemias.

    Yacobovich J, Tamary H

    HemaSphere 2019; (3(Suppl)) doi:10.1097/HS9.0000000000000190.

    PMID: 35309810
  19. 19

    [Haematopoietic stem cell transplantation in pyruvate kinase deficiency: When is it indicated?]

    Pérez-Albert P, Guillen M, Prudencio M, et al.

    Anales de pediatria 2018; (88(2)):106-107 doi:10.1016/j.anpedi.2017.02.016.

    PMID: 28389197
  20. 20

    Circulating extracellular vesicles and cytokines in congenital and acquired hemolytic anemias.

    Barcellini W, Zaninoni A, Giannotta JA, et al.

    American journal of hematology 2021; (96(4)):E129-E132 doi:10.1002/ajh.26108.

    PMID: 33491786
  21. 21

    Medical complications following splenectomy.

    Buzelé R, Barbier L, Sauvanet A, Fantin B

    Journal of visceral surgery 2016; (153(4)):277-86.

    PMID: 27289254
  22. 22

    Preventing infections in children and adults with asplenia.

    Lee GM

    Hematology. American Society of Hematology. Education Program 2020; (2020(1)):328-335 doi:10.1182/hematology.2020000117.

    PMID: 33275684

This page provides educational information about long-term monitoring for Pyruvate Kinase Deficiency. Always consult your hematologist to develop a personalized screening and surveillance plan for your specific needs.

Get notified when new evidence is published on Hemolytic anemia due to red cell pyruvate kinase deficiency.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.