Fanconi Anemia: Guidelines for Diagnosis and Management, 3rd by Mary Ellen Eiler, Lynn Frohnmayer, Dave Frohnmayer, Kim

By Mary Ellen Eiler, Lynn Frohnmayer, Dave Frohnmayer, Kim Larsen and Joyce Owen

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Extra info for Fanconi Anemia: Guidelines for Diagnosis and Management, 3rd Edition

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Index of Suspicion Physical appearance The most frequent characteristic birth defects in FA, in descending frequency from approximately 50 to 20 percent, include skin hyperpigmentation and café au lait spots; short stature; abnormal thumbs and radii; abnormal head, eyes, kidneys, and ears. These data are from 1,865 case reports in the literature (Alter, unpublished) and are biased by under- and over-reporting because cases in the literature tend to focus on the unusual or more sensational findings.

Appropriate plans for stem cell transplantation should be in place, as adverse changes may evolve rapidly. 3. , transient response to an acute infection or suppression secondary to medication) require evaluation with 56 Fanconi Anemia: Guidelines for Diagnosis and Management a complete blood count and bone marrow exam with cytogenetics. Such patients warrant continued close monitoring with complete blood counts every 1-2 months and a marrow exam with cytogenetics every 1-6 months. Appropriate plans for intervention should be in place, as adverse changes may evolve rapidly.

Early discussion with a transplant expert is recommended to allow families the option of initiating the procedure at an optimal time for the patient. If the patient has no hematologic abnormalities at the time of diagnosis, it is reasonable to defer referral to a transplant center. Early high resolution HLA typing of the patient and immediate family members is recommended to assess the availability of potential bone marrow donors. • S  ome families wishing to have additional children may be interested in pursuing prenatal screening or preimplantation genetic diagnosis (PGD) (see Chapters 9, 10, and 15).

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