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Red cell aplasia: acquired and congenital disorders

Red cell aplasia: acquired and congenital disorders

Pure red cell aplasia (PRCA) is a rare, generally chronic condition of profound anemia characterized by a severe reduction in the number of reticulocytes in the peripheral blood and the virtual absence of erythroid precursors in the bone marrow. All other cell lineages are present and appear morphologically normal. A congenital form of red cell aplasia is known as Diamond-Blackfan anemia (DBA). DBA is associated with a number of congenital abnormalities, risk of malignancy, and marked unresponsiveness to prednisone. Acquired pure red cell aplasia (PRCA) is a rare condition of profound anemia characterized by a very low reticulocyte count and the virtual absence of erythroid precursors in the bone marrow. All other cell lines are present and seem quantitatively and morphologically normal. Many cases of acquired PRCA are idiopathic. In others, underlying conditions, such as thymoma, myelodysplastic syndromes, lymphoma, leukemia, systemic autoimmune disorders, and viral infection (ie, parvovirus B19), or treatment with drugs, such as phenytoin or chloramphenicol, are identified. PRCA has also been described in patients treated with epoetin (EPO), resulting from the induction of neutralizing antibodies directed against the EPO molecule. Most reported cases have been in patients receiving EPO for chronic kidney disease (CKD)-related anemia.

Lab tests:

CBC and Automated Differential

Blood Smear with Interpretation

Reticulocyte count

Serum bilirubin

Haptoglobin

LDH

Direct antiglobulin (Coombs)

Iron and TIBC

Bone marrow aspiration and biopsy

Liver function test

Renal function test

Antinuclear antibody

 

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