1. Haemoglobinopathy testing and screening
Dr Susan Baird
Consultant Paediatric Haematologist
RHSC Edinburgh

2. Haemoglobinopathies
Sickle cell disease
Hb SS, Hb SC, Hb Sβthalassemia
Hb SD-Punjab, Hb SO-Arab, Hb SLepore, Hb Sδβthal
Thalassemia
Beta thalassemia major
Thalassemia intermedia - Hb E/β thal, Hb β thal/Lepore
3 or 4 gene deletion alpha thalassemia
Carrier states
Asymptomatic
Avoid unnecessary investigation or treatment of abnormal FBC
Provide appropriate ante/prenatal counselling and testing
Commonest inherited single gene conditions worldwide (7%) and now in the UK
~12,000 SCD in UK >75% London, numbers increasing elsewhere
1/2000 babies SCD, 1/2500 CF

3. Who is screened? - antenatal
All women at booking have FBC and family origin questionnaire (FOQ)
Haemoglobin electrophoresis performed if:
Hypochromic microcytic red blood cells
Relevant ancestry from FOQ
If carrier state detected then partner testing recommended via midwives
If high risk couple or partner not available then counselling offered
FOQ for both parents
MCH<27

5. Who is screened? - neonates
Part of newborn blood spot screen
Aim to detect sickle cell disease
Direct referral from NBS to paediatric haematology
Will also detect
Carriers of abnormal Hb eg HbAS, HbAC
Result from NBS to HV and GP with information
Most beta thalassemia major
Will not detect alpha or beta thalassemia trait
Routine testing in childhood not required
SCD in Scotland, prev 1-2yr LFB, 10/y Scotland
2015 – Scotland 208 carriers (154 AS, 22 AC, 12 AD, 20 AE),
LFB ave last 5 years 50 carriers
Beta thal major 1-2 /year in Scotland
Linkage of antenatal and newborn program

6. Who to investigate in 1y care?
Hypochromic microcytic +/- anaemia with iron deficiency excluded
Blood film comment suggests haemoglobinpathy
Relevant ancestry or family history
Pre-operative if sickle cell risk
Pre-conceptually
What investigations?
FBC and ferritin
haemoglobinopathy screen
Ancestry information improves interpretation
Diagnostic card and information sent to GP and carriers

7. Who to refer to haematology?
Patients with clincally significant haemoglobinopathies
Couples at high risk of having a child with clinically significant haemoglobinopathy
Adult patients with thalassemia trait and iron deficiency before starting iron supplementation
Persons where the diagnosis is unclear
Not including probable alpha thalassemia trait
HbD trait
Patient/parent request for further information

8. Who not to refer routinely*
Thalassemia carriers
Hypochromic microcytic RBC +/- mild anaemia
Asymptomatic
Carriers of HbS or other abnormal haemoglobin
Asymptomatic, not anaemic
Avoid severe hypoxia
Inform anaesthetist pre-op
avoid extreme altitude or depth
Avoid extreme exercise with dehydration and exhaustion
*unless thalassemia trait and concurrent iron deficiency in adults, or couples at risk for child with clinically significant haemoglobinopathy
Possible increased risk of venous thrombosis

9. Further information RefHelp
For haemoglobinopathy carrier information leaflets please see
carriers-sickle-cell-thalassaemia-unusual-haemoglobin
NHS Sickle Cell and Thalassaemia Screening Programme. Sickle Cell and Thalassaemia Handbook for Laboratories. ds/attachment_data/file/398702/LabHandbook2012Edit ion3v2.pdf