Diamond-Blackfan anemia physical examination

Diamond-Blackfan anemia Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Physical Examination

Appearance of the Patient

Diamond-Blackfan anemia is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow. This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and generalized growth retardation are sometimes observed. DBA patients have a modest risk of developing leukemia and other malignancies.