Table 1.

Workup for patients with FA after diagnosis

Soon after diagnosis:
Hematologic evaluation • FBC with differential count • Serum immunoglobulin levels, peripheral blood immunophenotyping, response to vaccines • Bone marrow aspiration for morphology and cytogenetics and immunophenotyping • Trephine bone marrow biopsy (definition of hematopoietic cellularity, abnormal localization of myeloid progenitors, increased blasts on specific CD34 and CD117 staining)
Extensive extra-hematologic evaluation • Liver, kidney, heart, urinary tract, gastrointestinal tract, skeleton, hearing and visual function evaluation • Endocrinologic evaluation (thyroid, glucose tolerance, pituitary gland function, gonads in postpubertal subjects) • Psychological evaluation • Brain magnetic resonance imaging with angiography for pituitary gland and Moyamoya syndrome • Assessment for cancers typically associated to FA with special attention to oral cavity
Chromosomal fragility tests in siblings and possibly in relatives
HLA typing of the patient, healthy sibling, and parents
Search of HLA-matched unrelated donor if no healthy HLA-matched sibling is found in the family
Modified from Dufour.1
FBC, full blood count; HLA, human leukocyte antigen.