Table 1.

Clinical monitoring in patients with pyruvate kinase deficiency

Complication	Recommended test(s)	Frequency of monitoring (age <18 years)	Frequency of monitoring (Age ≥18 years)
Hemolytic anemia	Complete blood count, reticulocyte count, bilirubin	Annually or more frequently based on hemolytic parameters and transfusions	Annually or more frequently based on hemolytic parameters and transfusions
Iron overload	MRI for liver iron concentration	If regular transfusions: MRI after first 10–14 transfusions, then annually If no regular transfusions: complete first MRI when the patient is able to complete an unsedated study; follow up patients annually if >5 mg/g or every 5 years if <5 mg/g	If regular transfusions: annually If no regular transfusions: annually if >5 mg/g or every 5 years if <5 mg/g
	Serum ferritin and transferrin saturation	If regular transfusions: every 3–6 months If no regular transfusions: annually On chelation: every 1 −3 months	If regular transfusions: every 3–6 months If no regular transfusions: annually On chelation: every 1 −3 months
Cholestasis	Abdominal ultrasound	Age 2 years then every 2–3 years or until cholecystectomy	Every 2–3 years or until cholecystectomy
Osteopenia	DEXA scan, vitamin D levels	First at age 16–18 years and then annually if low	Annually if low
Endocrinopathies	Thyroid hormone, sex hormones, fructosamine	-	If regular transfusions (or significant iron overload): annually
Pulmonary hypertension, cardiac complications	Echocardiogram	-	Consider after 30 years, before pregnancy, or any time if concerns arise
Viral infections	Viral hepatitis serology	If regular transfusions: annually	If regular transfusions: annually