Aplastic anaemia is a rare disease in children.

The support and care of children with aplastic anaemia tends to follow the same treatment guidelines as for adult patients. However, there are differences in the treatment of children with severe aplastic anaemia.

All young patients (to 16 years of age) should be cared for in centres with specialist expertise in looking after children and teenagers diagnosed with aplastic anaemia. 

Diagnosis

Family history or physical examination will not always reliably predict the presence of inherited mutations. Therefore, experts recommend the first three tests prior to determining the best treatment option:

  1. chromosomal breakage test for fanconi anaemia
  2. telomere length test to identify patients with dyskeratosis congenita
  3. lymphocyte subset testing to identify the presence of B cell lymphomenia
  4. next generation sequencing in bone marrow failure to identify cryptic mutations.

Treatment options

Treatment consists of haematopoietic stem cell transplantation or immuno-suppressive therapy. Stem cell transplantation remains the only curative therapy to date for severe aplastic anaemia.

Matched sibling donor haematopoietic stem cell transplantation

This is the first line of treatment recommended for children with severe aplastic anaemia. If a matched family donor is not found, focus moves on finding a matched unrelated donor.

Immunosuppressive therapy

In the absence of a matched sibling donor, immunosuppressive therapy with horse ATG and ciclosporin (CSA) can be considered for treatment. Horse ATG is considered superior to rabbit ATG.

Matched unrelated donor haematopoietic stem cell transplantation

There have been dramatic improvements in outcomes following this type of treatment over the last two decades. A decision to undertake this type of treatment or immunosuppressive therapy should be reached within 6 weeks of diagnosis. 

You can download and read a guide for families here.

The full set of guidelines for clinicians can be found here.