Refractory Anemia with Hyperplastic Bone Marrow

Abstract

1. The hematologic syndrome called refractory anemia with hyperplastic bone marrow, aregenerative anemia, chronic bone marrow failure, pseudo-aplastic anemia, and many other terms, has been separated into five types on the basis of clinical and hematologic studies on 23 patients carried out over a period of 16 years. These groupings are probably highly artificial but are made to facilitate presentation and description. As more is learned of the chemistry of the bone marrow cells in patients with refractory anemia, a more satisfactory classification will be possible. 2. Type 1 is characterized by bizarre chromatin in the normoblasts, mast cell hyperplasia, hemosiderosis or hemochromatosis and a tendency for spontaneous remissions to occur. 3. Type 2 is at first typified by complete or almost complete erythroid aplasia. Hyperplasia of erythroid cells with maturation arrest and bizarre chromatin pattern may occur later, and finally spontaneous remission may appear with considerable frequency. Mast cell hyperplasia, thymoma and hemosiderosis have been noted. 4. Type 3, associated with exogenous toxins and the preleukemia state, is characterized by pancytopenia and a bizarre chromatin pattern in the normoblasts. Some of these patients may he classified as "DiGuglielmo syndrome." 5. Type 4 also is typified by pancytopenia and hyperplasia of bone marrow but with cells of normal appearance. These patients responded partially or completely when splenectomy was performed, and probably represent a variant of the "hypersplenism" syndrome. 6. Type 5 is refractory megaloblastic anemia with typical cytologic changes evident in all cell types similar to those found in pernicious anemia. 7. Hypotheses are proposed to explain these various types of anemia on the basis of abnormalities in the metabolism of nucleic acids, particularly DNA. Deficiencies of metabolites, inhibition of metabolic reactions by exogenous or endogenous toxins, or by immune mechanism in which DNA serves as haptene, are possible explanations.

Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified‐Serum Test: a Type of Congenital Dyserythropoietic Anaemia

“…Porter, Fitch and Dinning (1962) described multinuclearity in vitamin E deficiency. Passing mention of erythroblastic multinuclearity has also been made by Vilter, Will and Jarrold (1967) and by Waltuch, Lanzerotti and Schrier (1968).…”

Leukemia in patients with acquired idiopathic sideroblastic anemia: An evaluation of prognostic indicators

“…Leukemia itself was not considered a cause of death. Of those who died without developing leukemia, cardiac hemochromatosis, and pneumonia were the leading causes of death in males [3] followed by myocardial infarction. Among females, pneumonia and hemochromatosis were equal in frequency with arteriosclerotic heart disease, myocardial infarction, and congestive heart failure.…”

“…In all, a total of 63 cases were excluded. These consisted of patients with nonsideroblastic marrow examination [34] , sideroblastic anemia due to nonhematologic malignancy and cytotoxic chemotherapy [8] , sideroblastic anemia with abnormal granulocyte precursor morphology [3], X-linked sideroblastic anemia [2] , AISA with low serum iron concentrations [3] , and AISA lost to followup [13] .…”

Sideroblastic Anemia in an Elderly Patient

“…Defective synthesis of hemoglobin and generation of hypochromic erythrocytes were found in all of them. Further similar cases were reported by Heilmeyer (2) as “anaemia refractoria sideroblastica” and by Dacie et al (3) as “refractory normoblastic anemia.” This blood disorder, known today as sideroblastic anemia (SA), is not a single disease, but includes a large group of heterogenic diseases (4, 5). Common to all its forms are: 1) hypochromic anemia, occasionally with a dimorphic erythrocyte population (hypochromic microcytes together with normochromic normocytes, as well as macrocytes) and a low reticulocyte count in the peripheral blood; 2) erythroid hyperplasia with a greater number of ring sideroblasts in the bone marrow; 3) signs of ineffective erythropoiesis; 4) a high plasma iron level with a low iron‐binding capacity; and 5) an increase in the total body iron content, especially in the reticuloendothelial system (6).…”