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.
[1] http://dbafoundation.org/learn-more/faqs/
[2] http://diamondblackfan.org.uk/wordpress/wp-content/uploads/2010/09/DBA-UK-Leaflet-2012.pdf
