Dr Rossby Awadzi, a GP trainee and Sickle Cell Clinical Fellow at NHS England with a passion for red cell medicine, explains how genetic counselling can empower those who may be carriers of inherited blood disorders. 

It started, as many things do, on a ward.

Two sickle cell patients, one quiet lunchtime, and a mutual curiosity. It started with the question, “Doctor, what do our blood results mean?”

At the time, I was a newly qualified doctor with an ever-growing passion for haematology. I put together a quick teaching session to answer my patients’ question, right there on the ward.

I then held a second session by Zoom, just to follow up and answer more questions. But unexpectedly, fifty people showed up. Three hundred and fifty attended part three. That casual lunchtime lecture I delivered became the ‘Sickle Cell Education Series’, now supported by NHS England, and hosting some of the largest educational workshops on sickle cell in the world. Our team includes clinicians, creatives, and a cinematographer, transforming complex haematology into content people actually want to watch.

I am now a GP trainee and the Sickle Cell Clinical Fellow for NHS England, balancing my love for red cell medicine with a calling to deliver education in a way that is memorable, cinematic, and rooted in real life.

Why? Because information about genetic conditions like sickle cell disorder and thalassaemia should not feel like trying to read a TV insurance policy. It should feel human, urgent, personal, because it is.

What does it mean to be a carrier of thalassaemia or sickle cell?

Let us start at the top. Genes are like family recipes. You get one copy from your mum, one from your dad. And sometimes, those recipes carry differences from the standard originals. In medical terms, we call these differences variants, and they can affect how your body functions. Sickle cell and thalassaemia are examples of such inherited conditions, caused when a child inherits altered copies of specific genes from both parents.

In these conditions, the key gene affected is the one that helps make haemoglobin, the molecule in red blood cells that carries oxygen around the body. When both parents carry an altered gene, their child has a one in four chance of inheriting the condition.

Think of it like this: if one parent hands you a slightly misspelt recipe for making haemoglobin and the other does too, your body follows both. The result? Your haemoglobin doesn’t work as expected, or at all.

Sickle cell disorder changes the shape of red blood cells from smooth and round to rigid and banana-shaped. These cells block small blood vessels, limiting oxygen delivery and causing intense pain episodes called crises. Over time, repeated blockages can damage vital organs and reduce life expectancy.

Thalassaemia, meanwhile, affects the body’s ability to make haemoglobin at all. This results in anaemia due to insufficient oxygen transport, subsequently leading to fatigue, poor growth, and in severe forms, lifelong dependence on blood transfusions.

So please. Donate. Donate. Donate. Become a blood donor via the GiveBloodNHS app or at www.blood.co.uk.

So, what is genetic counselling?

Now, enter genetic counselling. This is not just a meeting. It is a moment. It’s the space where medicine meets meaning. It involves explaining how inheritance works, calculating risk, talking through options like partner testing, prenatal diagnosis, or even IVF with genetic selection. It’s where someone says: “You’re not alone, let’s figure this out together.”

As Paula Sullivan, haemoglobinopathy midwife at Northwick Park Hospital in North West London, puts it: “If the lady is a carrier, I invite her and her partner in for screening and counselling. I explain the inheritance, take bloods, and we wait. It’s about giving them time, giving them choices.”

These conversations matter. They offer clarity when everything feels uncertain. Because if both partners are carriers, there is a one in four chance their baby will inherit the full condition. That number may sound clinical. But if it’s your child, it’s personal.

Why does this matter before pregnancy?

It matters because knowing now is kinder than reacting later. Once pregnancy begins, the clock ticks faster, emotions run deeper, and decisions become heavier.

Patricia Alfonso-Brown, a community sickle cell specialist nurse, sees it every day: “Most people come because of relationships. They want to know (am I a carrier? Could this affect my children?)”

But here’s the catch, many people do not know how or where to get tested. Some GPs say it’s not available. Others don’t know where to refer.

“It is pathetic,” Patricia says. “This sits right in front of you and there is no help. No one tells you.”

Testing is free. It is available. It is simple. But unless you are pregnant, persistent, or lucky enough to know someone in the know, you might never hear about it.

So, let’s flip the script. Let’s make testing the norm, not the exception. Let’s talk about carrier status before the baby shower invites go out.

And what happens when people do find out they’re carriers?

Cue emotions. Cue confusion. Cue fear. This is where psychology steps in.

Dr Kofi Anie, consultant psychologist, has seen it all: “People think being a carrier means you will get symptoms. Or that praying will change the result. Or that it is somehow their fault. I have seen men hyperventilating after a result. Women torn between their partner and their beliefs. We need to be clear, kind, and candid.”

The truth? Being a carrier does not mean being unwell, although there can be some uncommon health implications. It means you have the chance to plan, not panic.

Genetic counselling should be a calm in the storm. It should clear up myths, give real options, and remind people that knowledge is power, not punishment.

Let’s get real, what’s stopping us?

It’s not the science. It’s the silence. The awkwardness. The assumption that someone else will bring it up.

Alongside these conversations, we are building solutions. One of them is the Clinical Pathway Initiative, a framework I’ve been developing with colleagues within NHS England to make the process of delivering and acting on carrier status more consistent, more supportive, and more effective across the country.

This is not a duplication of the excellent work being done by midwives, community nurses, and genetic counsellors. It is a way to bring those efforts into harmony. The aim is to create a joined-up approach that ensures everyone, no matter where they live or who their GP is, gets the same quality of care, information, and follow up.

Why is this so important? Because sickle cell is the most common genetic disorder in the UK, and the numbers are rising. This rise is not just biological, it’s systemic. It reflects gaps in education, in awareness, and in the way we share information. Too many people simply don’t know they carry a trait until it’s too late to make an informed choice.

We want to move from chance discovery to intentional, informed care. From a whispered fact in a clinic room to a supported, system wide approach to education, screening, and counselling.

We need to move from the outdated systems where a newborn carrier result is sent to a parent and never spoken of again. Where that knowledge fades until it resurfaces two decades later, in a partner’s clinic room.

As Paula says: “We rely too much on parents to tell their kids they are carriers. When do they tell them? By the time those kids are adults, they are in relationships, and it is too late.”

We need digital systems that carry the memory for us. We need schools to teach inheritance alongside photosynthesis. We need churches, mosques, salons, and your auntie’s WhatsApp groups talking about this like it’s normal, because it is.

So, why haematology? Why sickle cell and thalassaemia?

Because this is medicine that speaks in generations. Haematology is not just about blood. It’s about legacy. About children yet to be born. About choices people don’t know they have.

I love red cell medicine because it’s not just about disease. It’s about dignity. It’s about people. And as a future GP with a specialist interest in red cell conditions, I want this work to live where people live, in their homes, their schools, their conversations.

Yes, we have new drugs. Yes, we have curative therapies. But none of that matters if people are afraid to ask the first question.

Let’s end with this:

You do not have to have sickle cell to carry the trait. You do not have to be pregnant to get tested. You do not have to wait for a crisis to understand your genetics.

So, the next time you are at your GP, ask. Next time you are on Instagram, share. And next time someone mentions sickle cell or thalassaemia, do not change the subject, change the story. If you are a healthcare professional, start the conversation.

Because knowing your status is not just about blood. It is about family, foresight and the freedom to make informed choices.