Pathophysiology

Probably always due to an as yet undefined germline genetic mutation, either inherited or arising in the affected infant. Familial patterns with both autosomal dominant and recessive inheritance have been described. Surviving sporadic cases (i.e. non-familial) have transmitted the disease to their children. Nature of underlying defect not known. Gene(s) involved not yet identified despite multiple associated developmental abnormalities. Anaemia likely to be due to intrinsic RBC progenitor cell defect rather than one of the microenvironment. 5 sensitivity of these cells to Epo and other cytokines described.

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