Inherited red cell disorders in pregnancy include:
- Haemoglobinopathy eg sickle cell disease or thalassaemia including trait
- Enzymopathy eg G6PD or pyruvate kinase deficiency
- Membranopathy eg hereditary spherocytosis (HS)
- Unstable Haemoglobins eg Hb Koln.
Anaemia and haemolysis associated with these conditions may worsen during pregnancy and will require monitoring in the joint Haem-Obs clinics at RIE or SJH.
Who to investigate:
- 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 jaundice, anaemia, reticulocytosis, raised bilirubin and LDH with a known family history of a red cell disorder.
C.M & L.W 31-07 23
Who to refer:
Please refer:
- Patients with clinically significant haemoglobinopathies*
- Couples at high risk of having a child with a clinically significant haemoglobinopathy (prenatally or antenatally)¥
- Patients with thalassaemia traits (alpha or beta) and proven iron deficiency prior to commencing iron supplementation
- Patients with confirmed unstable Hb, HS, G6PD or PK deficiency.
*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.
¥Both partners are haemoglobinopathy carriers, one affected partner and other haemoglobinopathy carrier, both partners have clinically significant haemoglobinopathy.
Please note that letters explaining the haemoglobinopathy trait and any actions required will be automatically generated and sent to the requestor and patient information will be sent to the patient.
Who not to refer:
- Haemoglobinopathy carriers if partner (1) does not have a clinically significant haemoglobinopathy or (2) is not also a haemoglobinopathy carrier
- Patients with thalassaemia traits who are not iron deficient
How to refer:
SCI Gateway to Department of Haematology RIE or SJH.
Who to investigate:
see above
Primary Care Investigations:
- FBC, Blood film
- Haemoglobinopathy Screen (HPLC)
- Ferritin
- G6PD or PK screen, if family history
- For haemoglobinopathy carrier information leaflets or inheritance risk chart please see Sickle cell and thalassaemia screening: commission and provide – GOV.UK (www.gov.uk)
- NHS Sickle Cell and Thalassaemia Screening Programme – Sickle Cell and Thalassaemia Handbook for Laboratories: http://sct.screening.nhs.uk/standardsandguidelines
