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Congenital pure red-cell aplastic anemia, also called Diamond-Blackfan anemia (DBA), is a rare congenital pure red-cell aplasia; anemia is the main clinical presentation, with multi-system tissue involvement as the key feature.
Anemia; pallor; poor feeding; physical malformations; craniofacial abnormalities
Ribosomal-protein gene mutations (RPS19 etc.) cause congenital erythroid-progenitor maturation arrest in marrow; macrocytic anemia with reticulocytopenia but normal WBC/platelets; congenital malformations in ~1/3.
Corticosteroids; transfusions; stem-cell transplant
Genetic counseling; early diagnosis; steroid responsiveness in ~80%.
It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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