August 27, 2025
Patients with rare diseases offered

Patients with rare diseases offered

The health service has launched a personalized “blood adjustment” test for people with rare diseases who need regular blood transfusions.

The move enables donor blood to be coordinated in more detail in order to reduce the risk of severe reactions.

The new test uses genetics to generate detailed blood group information.

It is the first time that it was used for patients with rare inherited arrival – with around 300 people who, according to NHS Blood and Transplant (NHSBT), are justified.

The program was supported by the family of toddler Woody Mayers at the age of 22 months, which have a rare inherited anemia called congenital dyserythropoetic anemia (CDA) type 1.

The condition causes the bone marrow to produce healthy red blood cells that carry oxygen around the body.

Woody Mayers, now 22 months, was born with an extremely rare blood disease (NHSBT/Family Handout)

It is estimated that it is influenced between one and five out of each million babies.

Patients have low hemoglobin levels, which means that Woody is based on blood transfusions every four weeks to stay alive.

However, the donor blood must be carefully coordinated in order to reduce the risk of developing patients against certain instanties, which can lead to serious reactions and make transfusions difficult in the future.

The new genotyping test program, a partnership between NHSBT and NHS England, uses genetics to identify more of the rarer blood groups.

Samples are collected in routine hospital appointments, with the patient’s DNA being tested to find out their blood groups.

Around 300 people with transfusion -dependent, rare inherited arrivals have justified the test.

All patients with sickle disorder and thalassemia are also an option, even if they do not rely on blood transfusions.

Kate Downes, Head of Genomics at NHSBT, said: “The new genotyping test can test blood groups faster and in more detail than standard test methods.”

Professor Dame Sue Hill, Chief Scientific Officer at NHS England, said: “The power of genomics changes medicine, whereby the genotypical expansion of the blood group is now being used to help patients, especially for those who need regular transfusions.

“This is an extraordinary example of an evidence -based innovation that was developed from genetic data and drives forward improvements that make a big difference in the entire NHS.

“Blood donations can be life -saving for patients, and the NHS needs a constant donation flow to offer people the best possible care. So I would encourage anyone who can donate.”

Woody’s family was made aware of potential health states in a 20-week pregnancy scan.

At 34 weeks he was born prematurely with the hemoglobin level by a quarter of what they should have been.

Woody's mother Polly was alerted on her son's health in a pregnancy scan (handout of the family/family).

Woody’s mother Polly was alerted on her son’s health in a pregnancy scan (handout of the family/family).

Woody’s mother Polly Mayers, 35, from Robertsbridge in East Sussex, said: “When he was born, he was very bad and pale. He didn’t cry for a few minutes. He needed ventilation acidia. It was really scary.

“The first few days were very critical for Woody. He was extremely uncomfortable. Nobody knew the cause of his hemolytic anemia.”

The toddler now has regular transfusions more than a year and received 140 ml of red blood cells every four weeks to increase his hemoglobin.

Nevertheless, his family describes him as an energetic little boy who likes excursions into the park and rides by bike.

His mother added: “Woody needs the blood to be well depicted so that his transfusions do not become too difficult or risky.

“The test helps him and everyone else with a similar condition. I hope that everyone is justified.”

Woody, who is 22 months, enjoys traveling into the park and rides by bike (NHSBT/FAMILY Handout)

Woody, who is 22 months, enjoys traveling into the park and rides by bike (NHSBT/FAMILY Handout)

Ms. Downes said: “Woody has a very rare disturbance and he is based on blood transfusions to stay alive, but they have to match.

“We want everyone to be tested, such as Woody, so that they can get better -to -stand blood.

Woody’s family also asks people to donate blood.

Ms. Mayers, a community matron, said: “There is no way to protect her. Woody would not be alive for blood donors.

“I am incredibly grateful to the blood donors for the fact that blood is available when he needs it.”

Leave a Reply

Your email address will not be published. Required fields are marked *