Genetic blood disorders and other inherited conditions

What are inherited conditions?

People inherit these conditions through the genes they receive from their parents. They are often very rare and can sometimes be identified from a parent or newborn baby's blood sample.

Some conditions don't develop until a little later in life. They include mucopolysaccharide and related diseases (MPS), chronic granulomatous disease, and Wiskott-Aldrich syndrome – the condition Anthony Nolan had.

You can find out more about genetic diseases and get support on the Gene People website.

There are two main groups of inherited conditions.

Primary immunodeficiency disease (PID)

There are many different types of PID, with different symptoms but they all share one similarity – they cause problems with the development of the immune system. Your immune system protects you from infection, so if you have a PID, you are more prone to infections.

Treatment for a PID aims to control your symptoms and minimise the effect they have on your quality of life. A stem cell transplant may be considered as a curative treatment if your symptoms become unmanageable.

In 2022, 70 patients had a stem cell transplant for a PID in the UK.

You can find out more about PID on the PID on the Immune Deficiency

My blood cells couldn’t fight infections, so I couldn’t join in with things – I couldn’t go outside when the grass was cut, I couldn’t go on playgrounds that had bark chips or near leaves, because of the fungal spores. I couldn’t go camping or into caves or on building sites – I basically couldn’t do anything fun!
Alex, who had a bone marrow transplant to treat his chronic granulomatous disease (a type of PID). You can read his story on our blog.

Inborn errors of metabolism (IEM)

This is a very rare group of inherited diseases that cause problems with your metabolism (the chemical reactions that occur in the cells of your body, which allow your body to break down nutrients and create energy). If you have an IEM, your metabolism doesn’t work as well as it could, which can cause serious health problems.

In 2022, 17 patients had a stem cell transplant for an IEM in the UK.

Inherited conditions and stem cell transplants

A stem cell transplant may be offered as an alternative treatment if other options are unsuccessful. Many inherited conditions are detected at birth, which means stem cell transplants may have to be given to small children.

If you’re a parent who’s supporting a child through a transplant, you can read our My child is having a transplant webpage for more information and support.

The stem cell transplant will likely be an allogeneic transplant – where new stem cells are donated from an unrelated donor. A small number of conditions can be treated with an autologous transplant – when doctors use a patient’s own stem cells.

Please speak to your transplant team for more information about your own situation, as they will be able to give you personalised, specific advice.

Sophie, who ran the Great North Run for Anthony Nolan

I couldn’t comprehend how his Mum and Dad coped. They had to watch what he ate and drank, who and what he played with. But over the years, understanding more about the condition and medication that helped James, I became in awe of this child!
Sophie, whose friend's son, James, had a stem cell transplant to treat a genetic disorder. You can read her story on our blog.