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NHS to introduce sickle cell disease blood genotyping


The NHS is introducing a new genetic blood-matching test to help people with sickle cell disease or thalassemia be more accurately matched to donors for blood transfusions,

It will be the first healthcare system in the world to introduce the new blood group genotyping test, in essence a detailed DNA analysis of each patient’s blood group.

The programme is being delivered in a partnership between NHS England and NHS Blood and Transplant (NHSBT). The aim is to reduce the risk of adverse reactions to donor blood that can commonly occur with conventional blood transfusions.

Sickle cell disease – which triggers intense pain after red blood cells become sticky, block vessels and restrict oxygen supply – is particularly common in people of Black African and Caribbean heritage.

There are estimated to be around 17,000 people living with the disease in England, with 250 new cases per year. These patients receive more than 10,000 units of blood per month through NHSBT.

People with thalassemia produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body, and this can cause chronic tiredness.

Thalassemia is mainly seen in people with an Asian and Southern Mediterranean heritage, with about 800 patients in England and less than 50 new cases each year. NHS England has said the test will also help patients living with other rare inherited anaemias.

The most common way to treat these conditions is via blood transfusion from donors.

However, currently up to a fifth of patients (17%) can experience bad side-effects after a transfusion because of inadequately matched blood, with the main source of blood for transfusions being people with European ancestry.

These side effects can lead to transfusion reactions and make it difficult to find enough blood for future transfusions. The effects of this can be severe, leading to a patient’s condition deteriorating and in rare cases even lead to death.

The new £1m programme will enable NHSBT to provide blood group genotyping in a specialised molecular diagnostics laboratory. Once a donor database is developed, the aim is that this will be used to match patients with sickle cell and thalassemia needing a blood transfusion more accurately, stop the development of antibodies and lead to better care for patients, NHS England has said.

NHS chief executive Amanda Pritchard said: “This fantastic new programme will significantly transform care for people living with sickle cell disorder and thalassemia – by using blood group genotyping, harmful side effects of transfusions will be reduced, hugely boosting patients’ quality of life.

“These conditions can be deeply debilitating and we know the barriers that this patient group can often face when accessing care – as this new programme shows, we are determined to continue to make improvements and do everything we possibly can to help these patients to lead normal lives.”

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