Borders Ref Help Toolkit
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.
How to refer:
SCI Gateway to the Department of Haematology