Hemolytic anemia due to red cell pyruvate kinase deficiency

What it is

From: Orphanet

A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Anemia · Very frequent (99-80%)

A reduction in erythrocytes volume or hemoglobin concentration.

Chronic hemolytic anemia · Very frequent (99-80%)

An chronic form of hemolytic anemia.

Reduced red cell pyruvate kinase level · Very frequent (99-80%)

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.

Reticulocytosis · Very frequent (99-80%)

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.

Splenomegaly · Very frequent (99-80%)

Abnormal increased size of the spleen.

Unconjugated hyperbilirubinemia · Very frequent (99-80%)

An increased amount of unconjugated (indirect) bilurubin in the blood.

Congenital hemolytic anemia · Frequent (79-30%)

A form of hemolytic anemia with congenital onset.

Hydrops fetalis · Frequent (79-30%)

The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.

Increased circulating ferritin concentration · Frequent (79-30%)

Increased concentration of ferritin in the blood circulation.

Increased circulating iron concentration · Frequent (79-30%)

The concentration of iron cation in the blood circulation is above the upper limit of normal.

Prolonged neonatal jaundice · Frequent (79-30%)

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.

Abnormal erythrocyte morphology · Occasional (29-5%)

Any structural abnormality of erythrocytes (red-blood cells).

Anisocytosis · Occasional (29-5%)

Abnormally increased variability in the size of erythrocytes.

Elevated transferrin saturation · Occasional (29-5%)

An above normal level of saturation of serum transferrin with iron.

Other findings in the same source

From: Orphanet

Additional reported features include Poikilocytosis (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 100 000; Specific population; Value and class. Point prevalence: 1-9 / 100 000; Europe; Value and class. Point prevalence: 1-9 / 1 000 000; Specific population; Value and class.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Hemolytic anemia due to red cell pyruvate kinase deficiency is Haematology, with a haematologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which blood-cell, marrow, bleeding or clotting finding matters most?
• Does the diagnosis need confirmation or a more precise subtype?
• Which symptoms or laboratory changes should trigger earlier review?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Hemolytic anemia due to red cell pyruvate kinase deficiency. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.