guidebook. - Fanconi Anemia Research Fund

Chapter 3: Treatment of Hematologic Abnormalities in FA
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1. Blood counts stable in the normal to mild marrow
failure range AND clonal cytogenetic abnormalities
absent
For patients with normal blood counts and no cytogenetic
clonal marrow abnormalities, the recommendation
is a complete blood count with differential white blood
cell count at least every 3-4 months and a bone marrow
with cytogenetics at least yearly. A similar monitoring
regimen is recommended for patients with mildly
abnormal, but stable, blood counts without any associated
clonal marrow abnormalities.
2. Blood counts stable in the normal to mild marrow
failure range AND clonal cytogenetic abnormalities
present
For patients with a cytogenetic clonal marrow abnormality
(in the absence of morphologic MDS) together
with normal or mildly low, but stable, blood counts,
increased frequency of surveillance blood counts and
bone marrow exams should be considered, as indicated
by the patient’s clinical status, to monitor for progression
to MDS or leukemia. It would be reasonable to
examine the blood counts every 1-2 months and the
bone marrow every 1-6 months initially to determine if
the blood counts are stable or progressively changing. If
the blood counts are stable, then the frequency of bone
marrow exams may be decreased. Appropriate plans for
stem cell transplantation should be in place, as adverse
changes may evolve rapidly.
3. Blood counts falling or rising
Patients with progressively changing blood counts
without a clinically apparent underlying cause (e.g.,
transient response to an acute infection or suppression
secondary to medication) require evaluation with