Abstract
The inherited marrow failure syndromes are a heterogeneous group, with all types of genetic patterns, and the entire gamut of symptoms and physical findings. The only condition which can be diagnosed with certainty is FA, because of the chromosome breakage ; even this diagnosis requires thinking of it first. Many of the patients with these syndromes are not properly diagnosed initially; since treatment depends on diagnosis, it is important that these conditions be considered for every patient with single or pancytopenia. Hematopoietic cultures may be useful for defining the diagnosis or determining the prognosis. Many of these syndromes can be detected in utero in subsequent pregnancies, and thus there is an additional reason for early diagnosis of the propositus. Since at least heterozygotes for some of these conditions may be common (e.g. FA 1/200), it is reasonable to suggest that aplastic anemia genes may be sufficiently prevalent to explain even “acquired” aplastic anemia.
