Living with Pyruvate kinase deficiency of red cells
An inherited blood condition in which red blood cells break down too early, causing anemia.
Understanding Pyruvate kinase deficiency of red cells
It causes chronic hemolytic anemia, meaning red blood cells are broken down too early, leaving too few of them. This can lead to pale skin, yellowing of the skin and eyes (jaundice), tiredness, and shortness of breath. An enlarged spleen, extra iron, and gallstones are common. It can range from mild to severe, and some people have few or no symptoms. Some severe cases need regular blood transfusions. Symptoms may worsen during infection or pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia (low red blood cells)
- Yellowing of the skin and eyes in newborns (jaundice)
- Enlarged spleen
- Tiredness
- Pale skin
- Gallstones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in PKLR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pyruvate Kinase Deficiency International Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PKLR gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient; cnsha2; deficiency of phosphoenol transphosphorylase; deficiency of phosphoenolpyruvate kinase; deficiency of pyruvate kinase; hemolytic anaemia due to pyruvate kinase deficiency
Patient organizations
- Pyruvate Kinase Deficiency International AlliancePyruvate kinase deficiency of red cells · United States
- Pyruvate Kinase Deficiency: Understanding and living with PKDPyruvate kinase deficiency of red cells · United States
You are more than your diagnosis
Perspectives from people navigating life with Pyruvate kinase deficiency of red cells.
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