Inherited red cell disorders

Inherited Red Cell Disorders (Adult & Paediatric)

These include:

Haemoglobinopathy eg sickle cell disease or thalassaemia
Enzymopathy eg G6PD or pyruvate kinase deficiency
Membranopathy eg hereditary spherocytosis (HS)
Unstable Haemoglobins eg Hb Koln
Haemoglobin variants.

Please note that newborn screening does not detect alpha or beta thalassaemia trait. Routine testing in childhood is not indicated. Consider testing pre-conceptually.

The following will need investigation:

Patients with red cell microcytosis and hypochromia with or without anaemia who have a normal ferritin level
Patients whose blood film comments recommend haemoglobinopathy or enzymopathy screening
Patients with a known family history of a red cell disorder
Patients with jaundice, reticulocytosis, raised bilirubin and LDH with/without anaemia
Patients with a family history of haemoglobinopathy or relevant ancestry considering conception or pre-operatively.

C.M & L.W 01-02-24

Who to refer:

Patients with clinically significant haemoglobinopathies^*
Couples at high risk of having a child with a clinically significant haemoglobinopathy (prenatally or antenatally)^*
Patients with confirmed unstable Hb, membranopathy, enzymopathy or whose diagnosis remains unclear
Some patients – eg G6PD – may not need to be seen and advice only may be required.

*CLINICALLY SIGNIFICANT HAEMOGLOBINOPATHIES INCLUDE:
Hb SS, Hb SC, Hb S/D Punjab, Hb S/O Arab, Hb S/Lepore, Hb S/ B thal, Hb S/DBthal, Beta thalassaemia major, Hb E/B thal, Hb B thal/Lepore, Hb H disease, Hb DD, Hb EE.

If testing identifies a certain or probable haemoglobinopathy trait, then a letter and any actions required will be automatically generated and sent to the requestor and patient or parents.

Who not to refer:

Haemoglobinopathy carriers if partner does not have a clinically or genetically significant haemoglobinopathy
Adult patients with haemoglobinopathies or thalassemia traits that are confirmed as iron deficient (ferritin less than 30 or low serum iron and transferrin > 3.0 g/L). They can be prescribed iron supplementation once daily for a period of 6-8 weeks. Ferritin levels should be checked, and iron supplementation discontinued when ferritin levels are >50. Red cell indices may not normalise so iron supplementation should not continue once ferritin levels are >50. The cause of iron deficiency should be established and investigated as appropriate.
Children whose Guthrie results reveal they are haemoglobinopathy carriers (unless specific parental request): please ensure they have received relevant carrier information leaflet from Resource and Links page.