Fanconi Anaemia

Also known as

  • Fanconi's Anaemia
  • Fanconi Anemia

Fanconi Anaemia (FA) is a rare, life-limiting inherited genetic disorder, with an incidence of about 1 in 350,000. Life expectancy is currently around 29 years.

Condition details

Fanconi Anaemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. The underlying cause is genomic instability resulting from the deficiency in the replication-dependent DNA interstrand crosslink repair pathway. Whilst the bone marrow failure element can be corrected through bone marrow transplantation from a well-matched donor, there is still no cure for the cancer-predisposing condition .

I would like to edit or add detail to this database entry

Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Can manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

How many are affected?

Support groups and organisations

Mr Robert Dalgleish
Fanconi Hope
PO Box 905
Southsea
Hants
PO1 9JG
UK
Tel 0845 271 2811
Facebook

Known experts

No experts found

I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here