Diamond Blackfan Anaemia (DBA) is a rare blood condition where the bone marrow fails to produce red blood cells. These red blood cells are necessary for life since they carry oxygen around the body. Patients are usually diagnosed before the age of two and require treatment to compensate for their lack of red cell production.
DBA can cause fatigue, poor growth, lack of appetite and a pale complexion. In about a half of cases patients also suffer associated congenital abnormalities. Some affected children are short for their age and may have delayed puberty. DBA patients also have a slightly elevated risk of certain types of cancer.
Many patients with DBA are treated with blood transfusions, often monthly, to bring their red blood cell count up to an acceptable level. The body normally recycles iron from old red blood cells when producing new ones but this does not happen in DBA patients. Frequent transfusions cause the accumulation of iron in the body. Iron overload can cause damage to the major organs if not properly managed and so patients must take a “chelation” drug to remove excess iron from their bodies. Often this takes the form of a nightly infusion of medication (Desferal) via a subcutaneous needle over a ten hour period. In other cases an oral drug (Exjade) can be taken daily.
Some DBA Patients respond to a high dose of steroids, often taken every other day, which can stimulate a response in the bone marrow and instigate red cell production. In these cases transfusions can be reduced in frequency or stopped altogether. Although a patient has a reasonable chance of responding to the high dose of steroids initially given, response may subsequently fail either spontaneously or as dosage is reduced to safe long-term levels. Long term steroid use can have undesirable side-effects.
Although it is not common for a stem cell (‘bone marrow’) transplant to be deemed essential, many consultants believe that this is the best way to restore red cell production completely. This process can be risky and finding matched bone marrow donors can be very challenging.
On rare occasions it has been known for DBA patients to go into remission, with a temporary or permanent cessation of symptoms.
What causes DBA? DBA is not the only condition which leads to the failure of red blood cell production. Research has shown a genetic link between ribosomal proteins and DBA, though only around 50% of DBA cases have a known genetic cause. Research is ongoing to find further causes of DBA. In many cases the genetic “error” occurs sporadically rather than being inherited. Further research is required to establish the exact causes, as well as wider research into improved treatments and possible cures.
The condition is very rare with only around 125 cases in the UK. Patients and carers can be left feeling isolated in terms of struggling to gain access to the right care and in terms of getting the emotional support they need from others in the same situation.
In 2008 the international medical DBA community published a DBA_consensus document about diagnosing and treating DBA.
More recently (2011) a doctor and nurse in the US came out with a paper which was published in the Blood Journal called How I treat DBA.
The DBA Foundation (a US organisation) has an online brochure on DBA.
In the US, an organisation called the Centres for Disease Control and Prevention (CDC) provides some more information on DBA, including a range of simplified documents on DBA which are appropriate to the US (sorry, no information is yet available specific to the UK).
DBA UK is not a medical charity and is not qualified to give medical advice on DBA. Please consult your doctor or health care provider if you are worried about the medical aspects of DBA. However, if you would like to talk to other DBA patients and families who may have been in the same position as you then please contact us.