Stem cell therapy and Diamond-Blackfan anaemia (DBA)

Diamond-Blackfan anaemia is usually diagnosed before 2 years of age [1]

Only 50% of DBA cases have a known genetic cause [1]

In about half of cases patients also suffer congenital abnormalities[1]

DBA is very rare; there are only around 125 cases in the UK [1]

DBA was first described in 1938 by doctors Kenneth Blackfan and Louis Diamond [2]

Only around
125 cases
of DBA in the UK

What is Diamond-Blackfan anaemia?

Diamond-Blackfan anaemia (DBA) is a very rare and potentially life-threatening blood condition where bone marrow fails to produce red blood cells. This means that blood is unable to carry enough oxygen to the lungs and other parts of the body, resulting in a number of severe symtoms including fatigue, poor growth, pale complexion and delayed puberty.

Patients are normally diagnosed before the age of two and – as there is no cure yet – will require medication and/or blood transfusions for the rest of their lives to compensate for their lack of red blood cell production. Blood transfusions would usually be required on a monthly basis to regulate red cell count, however this can cause iron overload in the bloodstream which requires further medication to remove.

Stem cell therapy research

The primary treatment for severe anaemias is a bone marrow stem cell transplant. But ongoing research has proven that Haematopoietic stem cells (HSCs) found in cord blood can achieve normal red blood cell counts in Diamond-Blackfan anaemia patients.
It’s important to note that studies so far recommend allogeneic hematopoietic stem cells (HSCs) for therapy; cord blood stem cells taken from a sibling with a typically higher HLA match[3].

Our stem cell releases for anemia

To date, Future Health Biobank has released one cord blood stem cell samples for the successful treatment of Diamond-Blackfan anaemia. The patient was a young boy who received the infusions of cord blood from their sibling.

Many parents and healthcare professionals approach us seeking information for children that are diagnosed with anaemia. Our guidance for therapy page provides useful links to the latest developments in stem cell therapies.

References

1. http://diamondblackfan.org.uk/

2. http://www.danafarberbostonchildrens.org/conditions/blood-disorders/diamond-blackfan-anemia.aspx

3. https://www.ncbi.nlm.nih.gov/pubmed/17663681

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