Haematology - Fanconi Anaemia

Question 1

Definition

Answer 1

Inherited macrocytic-normochromic anaemia = autosomal recessive X-linked disorder of chromosome fragility causing inherited bone marrow failure syndrome, pancytopenia, and dysmorphic features and reduction in production of RBC in bone marrow

Question 2

Causes

Answer 2

Mutations of several genes responsible for DNA repair = impaired cellular repair DNA cross-links

Question 3

Signs and symptoms

Answer 3

Cytopenia development
- Increased bruising
- Bleeding
- Frequent interactions
Symptomatic anaemia related to impaired oxygen-carrying capacity develops late in disease.
- Short stature
- Skeleton abnormalities
- Renal anatomical conditions
- Cafe-au-lait spots
- Microcephaly
- Low birth weight
- Structural heart abnormalities
- Easy bruising, lethargy, weakness, predisposition to infections
- Increased risk of cancer (AML)

Question 4

Investigations

Answer 4

Genetic testing

Question 5

Treatment

Answer 5

Surgery for skeleton abnormalities
Growth factors =
- Granulocyte colony-stimulating factor (G-CSF)
- Granulocyte macrophage stimulating factor (GM-CSF)
- Thrombopoietin mimetics
Androgen therapy
Surgery
- For skeletal abnormalities
- Allogenic haematopoietic stem cell transplant