Diamond-Blackfan anemia laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
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. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
Revision as of 05:44, 5 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
Laboratory Findings
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.