Fanconi anaemia

Autosomal recessive condition characterized by severe hypoplasia or aplasia of the bone marrow (so anaemia, low white cells and thrombocytopenia). Clue is congenital hand defect, but lower limb, head/eye/ear/genital abnormalities also common.

Majority also have cafe au lait spots.

It is possible to diagnose Fanconi anemia before bone marrow failure occurs, with potential to find bone marrow match.

Diagnosis is by Chromosomal breakage studies.