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

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

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

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

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

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

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

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