Treatment

General

• Supportive—blood transfusion with iron chelation as required.

• Treatment of associated congenital anomalies where necessary.

Specific

• Combined therapy with steroids (moderate dosage alternate days) and androgens (oxymethalone 2-5mg/kg/d). Most patients respond to treatment but eventually become refractory.

• Haemopoietic growth factors may offer temporary relief from neu-tropenia and anaemia.

• BMT is potentially curative, but FA patients hypersensitive to condi- 457 tioning agents cyclophosphamide and radiation. Using low doses, matched sibling grafts give 70% actuarial survival at 2 years; unrelated donor results less good but improving. Early survivors showed 4 risk of tumours, especially head and neck.

• Much interest in gene therapy. Early trials have occurred, but no major therapeutic success. Theoretically should be possible to transduce patient stem cells from those with known mutations with the appropriate wild type FA gene, and for these stem cells to have a natural growth advantage over FA cells. So far responses have been disappointing and short-lived.

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