Diamond-Blackfan anemia: Difference between revisions

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==Diagnosis==
==Diagnosis==
A diagnosis of DBA is made on the basis of anemia, low [[reticulocyte]] (immature red blood cells) counts, and diminished erythroid precursors in bone marrow.  Features that support a diagnosis of DBA include the presence of congenital abnormalities, [[macrocytosis]], elevated [[fetal hemoglobin]], and elevated [[adenosine deaminase]] levels in red blood cells.  Most patients are diagnosed in the first two years of life.  However, some mildly affected individuals only receive attention after a more severely affected family member is identified.  About 20-25% of DBA patients may be identified with a [[genetic test]] for mutations in the [[RPS19]] gene.


==History==
==History==

Revision as of 13:02, 21 September 2012

Diamond-Blackfan anemia
ICD-10 D61.0
ICD-9 284.01
OMIM 105650
DiseasesDB 29062
MeSH D029503

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

Overview

Clinical Features

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.

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