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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Pediatric pure red cell aplasia

小儿内科

Common symptoms

嗜红细胞综合征

The pathology of disease

Pure red cell aplasia in children (Diamond-Blackfan anemia) is congenital erythroid aplasia; infant macrocytic anemia; physical anomalies; steroids; transfusion; transplant.

Symptoms

Macrocytic anemia; infant; pallor; physical anomalies (short stature, head); elevated RBC adenosine deaminase; steroids/transfusion

Causes

Diamond-Blackfan anemia; ribosomal gene mutation; congenital pure red cell aplasia; AR/AD.

Treatment

Corticosteroids; chronic transfusion; iron chelation; bone marrow transplant; hematology/genetics

Dept

Pediatric hematology / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.