Here we take a look at Diamond-Blackfan Anaemia, a rare haematological disorder.

Diamond-Blackfan Anaemia, also known as DBA, is the result of the body’s bone marrow not making enough red blood cells; red blood cells are the cells in blood which are responsible for carrying oxygen around the body [1].

The symptoms of Diamond-Blackfan Anaemia are shared with other kinds of anaemia and include; pale skin, sleepiness, rapid heartbeat, and heart murmurs.  In many cases there are no physical signs of DBA, however, in approximately 25% of cases abnormal features may be present which could affect the face, head and hands, particularly the thumbs [1].

Fortunately Diamond-Blackfan Anaemia is incredibly rare, affecting just 125 people in the UK and less than 1000 people world-wide [2].  Diamond-Blackfan Anaemia is usually diagnosed in the first year of life and affects both boys and girls equally, occurring across all ethnicities [1].  DBA is a genetic disorder; in about half of families studied, only one person in the family has DBA.  The children of those with Diamond Blackfan Anaemia have a 50% chance of inheriting the condition with symptoms varying in severity [1].  In families where Diamond Blackfan Anaemia has been diagnosed, genetic counselling may be available to determine the risk to future children.

The treatment of Diamond-Blackfan Anaemia varies.  Common treatments for very low blood counts in DBA patients include blood transfusions and corticosteroids.  In some patients a stem cell transplant may be considered [1].  Stem cells used in the treatment of Diamond-Blackfan Anaemia may be sourced from bone marrow or cord blood.  Cord blood banking for families affected by Diamond-Blackfan Anaemia could increase the chances of a stem cell match being found for loved ones.




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