Description, Causes and Risk Factors:
Erythroid hypoplasia is a condition in which an abnormally low number of red blood cells are produced and released into the body. There are a number of different conditions that can cause this disorder, some of them congenital and some of them caused by disease or injury. Patients with this condition may have moderate-to-severe anemia and can be at risk from lack of oxygen in the blood and cells. Blood transfusions are often used to treat this disorder in an emergency. In some patients, erythroid hypoplasia may need to be treated long term through the use of blood transfusions while in other cases the disorder may correct on its own or with the assistance of medication.
Erythroid hypoplasia is a rare disorder characterized by a profound reduction in erythroblasts in the bone marrow. It can be a congenital disorder or can be acquired in association with an underlying disease. In the acquired group, the most common disease associations are with thymoma, viral infections, connective tissue diseases, and malignancy. Occasional reports have documented the occurrence of erythroid hypoplasia in patients with myelodysplastic syndrome (MDS). These patients present with severe anemia, reticulocytopenia, and a paucity of recognizable erythroid cells in the bone marrow, associated with some evidence of an intrinsic cell defect. In addition to erythroid hypoplasia, bilineage or trilineage dysplasia in a high percentage of cells (> 20%) is a crucial determinant for the recognition of this entity.
The exact prevalence of erythroid hypoplasia in MDS is not known. In a series of 360 cases of MDS diagnosed in a single institute over a 10 year period, six (prevalence of 1.6%) were found to have MDS with erythroid hypoplasia/aplasia. In a review of the literature only 16 well documented cases of MDS with erythroid hypoplasia/aplasia. In that review, there was a male predominance (male to female ratio of 3:1), with a mean age of 70 years (range, 41-87). There were no pediatric cases in their series.
A 54-year-old woman was admitted due to high-grade fever, cervical lymphadenopathy and general malaise. On examination, severe anemia was noted, direct Coombs and cold hemagglutinin tests were positive and the haptoglobin level was low in the peripheral blood. However, a bone marrow examination revealed marked erythroid hypoplasia. A diagnosis was made of co-existing combined type autoimmune hemolytic anemia (AIHA) and erythroid hypoplasia. A pathologic diagnosis of de novo CD5-positive diffuse large B-cell lymphoma (de novo CD5'+' DLBCL) was made based on a cervical lymph node biopsy. The patient was treated with CHOP accompanied by rituximab (R-CHOP), resulting in complete remission after 3 courses of chemotherapy. The AIHA and erythroid hypoplasia subsided after 2 courses of R-CHOP. The sera obtained during erythroid hypoplasia significantly inhibited the growth of erythroid progenitor cells (erythroid colony-forming units, CFU-E) from her bone marrow collected after recovery.
The symptoms of erythroid hypoplasia are the same as those experienced with other types of anemia. Unexplained fatigue is the most common symptom because the decrease in oxygen in the blood makes it difficult for the body and brain to receive enough oxygen. Feelings of being out of breath are also commonly experienced with erythroid hypoplasia as are feelings of dizziness or faintness. Patients with low red blood cell counts may also appear pale.
The first step in the diagnosis of erythroid hypoplasia is detection with reliable, accurate tests so that important clues to underlying disease are not overlooked and patients are not subjected to unnecessary tests for and treatment.
Bone marrow examination.
Patients with severe erythroid hypoplasia may require emergency medical attention. A severe drop in the number of red blood cells in a patient's bloodstream may cause the patient to lose consciousness and suffer brain damage. An emergency transfusion can provide relief from the symptoms of severe anemia. In some cases, however, patients may have sustained irreversible damage to the hematopoietic stem cells, in which case blood or marrow treatments may be needed frequently in order to keep the patient from showing symptoms of erythroid hypoplasia. In other cases, medication that stimulates red blood cell production may be enough to correct the disorder.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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