What Is Red Cell Aplasia?

Congenital pure red cell aplastic anemia, also known as Diamond-Blackfan anemia (DBA), is a genetic disease characterized by simple red line aplastic dysfunction and congenital malformations. It is a rare congenital pure red cell aplastic anemia. Anemia is the main clinical manifestation of this disease, and developmental malformations and increased susceptibility to tumors are the main clinical characteristics of this disease. The cause of this disease is unknown, and some patients have a family history, suggesting that it may be genetically related. A small number of literatures have reported that autolymphocytes can inhibit the formation of normal erythrocyte colonies, and this disease may be considered to be an immune disease.

Basic Information

English name: Diamond-Blackfan anemia (DBA)
Visiting department: Hematology

Whether inherited: Yes
Disease characteristics: Anemia is the main clinical manifestation.

Causes of congenital pure red blood cell aplastic anemia

Congenital pure red blood cell aplastic anemia is a disorder of ribosome synthesis, caused by mutations in genes that affect ribosome synthesis. It usually shows autosomal dominant inheritance, but the severity varies greatly within a family.

Clinical manifestations of congenital pure red blood cell aplastic anemia

Age of onset

90% of patients develop the disease within one and a half years, and 35% are born at birth. Most patients develop symptoms of anemia 3 to 4 weeks after birth.

2. Anemia manifestation

Onset is slow and gradually worsens. Appears as pale, debilitated, weak and weak, without liver, spleen, and lymph node enlargement. Severe patients may have enlarged heart and even heart failure. No bleeding tendency, infection and tumor are prone to occur in advanced stage.

3. Congenital developmental abnormalities

30% to 35% of patients may have congenital developmental abnormalities, such as special face (thick upper lip, wide eye distance), kidney deformity, congenital heart disease, exophthalmos, strabismus, cleft lip and palate, cervical webbing, finger (toe) deformity, Skin pigmentation abnormalities, genitourinary organ deformities, etc.

4. Tumor susceptibility

Patients with this disease are more susceptible to tumors than normal people of the same age, with a probability of about 4%; and the age of onset is early, with a median age of 15 years. The susceptible tumors of patients with this disease include acute lymphoblastic leukemia, lymphoma, thymic cancer, hepatocellular carcinoma, melanoma, gastric cancer and colon cancer. If the patient has a tumor, the prognosis of the patient is worse than that of the general population.

Congenital pure red blood cell aplastic anemia test

Blood test

Hemoglobin is usually lower than 40g / L, which is a large cell anemia. White blood cells and platelets are normal, and reticulocytes are significantly reduced or absent. In the later stage, if hypersplenism is associated, all three lines of cells can be reduced.

2. Bone marrow cytology

Primitive red blood cells are lacking, the proportion of granular red is increased, and the young red blood cells are significantly reduced. The proliferation of other bone marrow cells was normal.

3. Other laboratory inspections

Erythropoietin content in blood and urine increased, and the percentage of hemoglobin F was higher than that of children of the same age.

Diagnosis of congenital pure red blood cell aplastic anemia

1. Slow onset, more than 2 weeks to 2 years after birth, the incidence of premature babies is higher.

2. May have congenital malformations.

3. The skin and mucous membranes are pale, weak, loss of appetite, debilitating spirit, no bleeding, fever, and no liver and splenomegaly.

4. Large cell anemia. Hemoglobin can be reduced to 10-90g / L, reticulocytes <2%, white blood cells and platelets are normal.

5. Bone marrow hyperplasia is active, and red blood cell precursors are significantly reduced.

Treatment of congenital pure red blood cell aplastic anemia

1. Drug treatment is effective at the beginning of treatment. Most of the patients who are treated within 3 months after the onset of disease are effective. Prednisone oral treatment, if effective, can increase bone marrow erythrocytes and reticulocytes in 1 to 3 weeks, and normalize hemoglobin in 4 to 6 weeks. It should be noted that the drug can be gradually reduced or even discontinued after the drug is effective, because of the long-term application of hormones, infants, especially premature infants, are prone to complications such as delayed growth and neuromuscular dysplasia.

2. Blood transfusion

Patients with severe anemia need intermittent blood transfusion, it is best to maintain hemoglobin above 75g / L, but repeated blood transfusion should pay attention to complications such as hemosiderin and can be treated with iron removal.

3. Gene therapy

Gene therapy is still being studied. Increasing the expression of rpsl9 in patients' red blood cell progenitor cells can promote red blood cell development.

4. Hematopoietic stem cell transplantation

For patients who are dependent on blood transfusion, hematopoietic stem cell transplantation can cure the disease. However, care should be taken to rule out that donors carry disease-causing gene mutations and graft-versus-host responses.

Prognosis of congenital pure red blood cell aplastic anemia

For the prognosis of this disease, 10% to 20% of patients can achieve remission spontaneously; while 70% of patients can achieve complete remission or cure after treatment, but there is a tendency to relapse, and relapse can reach complete remission after retreatment; also Some patients have a poor prognosis, which can cause hemochromatosis due to blood transfusion, or die from complications such as congestive heart failure or tumors.

Prevention of congenital pure red blood cell aplastic anemia

Because the disease is a genetic disease, those with a family history of congenital pure red blood cell aplastic anemia should pay attention to genetic counseling and prenatal diagnosis, which is conducive to eugenics.