Leukaemia
Leukaemia is a type of cancer that affects the production and function of blood cells. Although the condition is rare it is more likely to develop in children who have Down’s syndrome when compared to other children in the general population.
About Leukaemia
Firstly, leukaemia is classified by the way the child presents; if the onset is quick it is named an acute leukaemia and if slow then it is called chronic leukaemia. Acute leukaemia is by far the most common in children who have Down’s syndrome.
The second classification is based on the type of cell that is involved. If this process happens in a cell from the myeloid line, the leukaemia is called myeloid leukaemia and if it happens in the lymphoid line then it is called lymphoid leukaemia.
Both Acute Myeloid and Acute Lymphoid Leukaemia occur in children who have Down’s syndrome more commonly than in the general population and have roughly equal incidence.
In addition, some babies who have Down’s syndrome are born with a unique pre-leukaemic condition called ‘Transient Leukaemia of Down syndrome’ (TL-DS). This condition, which is also sometimes called “TAM”, can develop into Acute Myeloid Leukaemia in early childhood. It is similar to Leukaemia but is a temporary condition that usually resolves without any treatment as the baby gets older.
In over 80% of cases TL-DS resolves without any treatment by 3 months of age. A few babies, who are more severely affected, may need treatment with chemotherapy. Children with TL-DS usually respond well to therapy and most recover fully from this condition.
All children who have Down’s syndrome will receive a blood test (full blood count and blood film) within the first three days of life. An abnormal blood count/film may indicate the presence of TL-DS.
There is a specific genetic test that can be done to identify Transient Leukaemia. This is called a GATA1 mutation test. It measures changes in the genetic code of the GATA1 gene. The GATA1 mutation test also identifies all babies at risk of developing Myeloid Leukaemia of Down Syndrome in early childhood.
It is not necessary to test all babies who have Down’s syndrome using the GATA1 mutation test. The guidelines recommend that only babies where there is a very abnormal blood count or blood film should have this test. It is positive that screening takes place because it means those children at increased risk can be identified and receive appropriate treatment when they need it.
In addition, all new-borns who have Down’s syndrome should be examined for signs of TL-DS, which include organ enlargement, liver dysfunction and skin rashes. There is no evidence that screening for leukaemia after the new-born period is necessary or helpful, and it is not included in the Down’s Syndrome Medical Interest Group’s guidelines for screening or surveillance for this reason.
There are well established criteria for conducting screening tests, with evidence that the tests will change outcomes, and this is not the case for leukaemia, where clinical symptoms and signs occur early.
For any older person (child, adult) there is no predictive test for leukaemia, the signs/symptoms are the same as for any other person, e.g. easy bruising, repeated infections when these aren’t usual for the person, pallour etc.
If you have any concerns for the person you support, seek urgent medical advice. You will find further information in our resource ‘leukaemia’ linked to below.
Further Info & Advice
If you have any questions about health issues, you can call DSA’s Helpline (Tel: 0333 1212 300) or email using info@downs-syndrome.org.uk. If an information officer is unable to answer your question, they can make a referral to the medical adviser at the UK & Ireland Down Syndrome Medical Interest Group (DSMIG).
Please note DSMIG can provide general advice about health issues but they are not able to comment on individual test results. DSMIG are happy to take enquiries from health professionals but they will not take direct from enquiries from families or supporters.