Written by Jennie Sule‑Ejeh, Haemoglobinopathy Nurse Counsellor & Specialist Community Nurse for Sickle Cell and Thalassaemia
July 15, 2026
Drawing on my role as a Haemoglobinopathy Nurse Counsellor and Specialist Nurse for Sickle Cell and Thalassaemia, I aim to support early conversations, reproductive counselling and equitable pathways for families.
Every booking appointment, every screening discussion and every moment of explanation is an opportunity to change the trajectory of a family’s life. In haemoglobinopathy care, conversations are clinical interventions and when they happen too late, the consequences can be profound. The following real cases from people I encountered in my role illustrate why making every encounter count is essential.
A 26‑year‑old woman with Sickle Cell Anaemia (HbSS) and her partner, who is a sickle cell carrier (HbAS), entered pregnancy without fully understanding their reproductive risk. Although both had been screened previously, neither had been supported to make sense of what their results meant. She declined prenatal diagnosis (PND), believing it was unnecessary, and her baby was later confirmed to have Sickle Cell Anaemia (HbSS).
Her postnatal course was complex, involving a prolonged admission, blood transfusion and IV antibiotics. During postnatal conversations, it became clear that she did not know her own genotype, her partner had never been given a clear explanation of Sickle Cell Disease (SCD), and the couple had never been offered space to explore their reproductive options before conception. Preimplantation Genetic Testing for Monogenic conditions (PGT‑M) was discussed only after delivery, at a point when their choices had already narrowed and emotions were high.
This was not a case of refusal but of missed conversations, missed opportunities and missed understanding.
Learning: Conversations that should occur before conception were happening after birth, limiting choice, increasing distress and highlighting the importance of early, confident, well supported discussions.
A woman with β‑thalassaemia trait and her partner, also a carrier, faced significant communication barriers from the outset. During her first pregnancy, she did not speak English, and her partner dominated the consultation, answering questions on her behalf. Although screening and prenatal diagnosis (PND) were offered, she declined and this pattern continued across four pregnancies.
Over time, her English improved, but her understanding of haemoglobinopathies did not. Each decline was recorded as “informed choice”, yet she had never fully grasped the implications of being a carrier, the 1 in 4 risk to each pregnancy or what prenatal diagnosis could offer. No one had explored her autonomy, her comprehension or the dynamics within the consultation.
It was only after the birth of her fourth baby, diagnosed with β‑thalassaemia major, that she finally understood the condition, the inheritance pattern and the options she had unknowingly declined. Her devastation was profound, rooted not in the diagnosis alone, but in the realisation that she had never been given the space, language support or clarity she needed to make an informed decision.
Learning: Repeated declines should never be accepted at face value. They are a signal to pause, explore understanding, assess communication needs and ensure the woman’s voice is truly heard. Declined PND does not necessarily mean informed choice.
Haemoglobinopathies are among the most common inherited conditions encountered in maternity services. In England:
In 2019–20:
Women with SCD face increased risks of vaso‑occlusive crises, infection, pre‑eclampsia, Venous Thromboembolism (VTE), foetal growth restriction and preterm birth.
Key midwifery actions: Early referral for joint haematology–obstetric care, folic acid optimisation, individualised pain and hydration plans and regular foetal surveillance.
Women may require haemoglobin and iron monitoring, coordinated transfusion planning and specialist review for iron overload. Carriers are usually well but partner testing remains essential.
National work continues to explore the future use of non-invasive prenatal diagnosis (NIPD) for haemoglobinopathies within the NHS.
For couples at risk of having a child with a haemoglobinopathy, reproductive options include:
Informed choice requires time, visibility and support.
The Sickle Cell and Thalassaemia Counselling: Knowledge and Skills framework outlines essential competencies for safe, effective counselling across the pathway.
The national Sickle Cell and Thalassaemia Screening: Education and Training guidance provides structured learning for midwives and specialist nurses.
For deeper expertise:
These modules develop advanced skills in risk communication, counselling and inherited conditions.
These stories show that:
Every encounter is an opportunity to strengthen confidence, build competence and support informed, empowered decision-making.
NHS England Research and analysis Sickle cell and thalassaemia screening: data report 2019 to 2020 Published 13 April 2022
NHS England Guidance Understanding haemoglobinopathies Updated 11 July 2025
British Society for Haemtology Guidelines for the Management of sickle cell disease in pregnancy Date: Thursday, 19 August 2021 Last Review Date: Friday, 20 August 2021
https://b-s-h.org.uk/guidelines/guidelines/gl-management-of-sickle-cell-disease-in-pregnancy
British Society for Haemtology Guideline for the Management of Conception and Pregnancy in Thalassaemia Syndromes Date: Wednesday, 8 May 2024 Last Review Date: Monday, 14 October 2024
Public Health England (2020) SCT Counselling: Knowledge and Skills overview
NHS England (2023) Guidance Sickle cell and thalassaemia screening: education and training
https://www.gov.uk/guidance/sickle-cell-and-thalassaemia-screening-education-and-training
Great Ormond Street Hospital (n.d.) Genomic medicine – our impact. (Accessed: 9 June 2026)
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