sideroblastic anemia (redirected from sideroblastic anaemia)

Sideroblastic Anemia 

Definition

Sideroblastic anemia is a term used to describe a group of rare blood disorders characterized by the bone marrow's inability to manufacture normal red blood cells.

Description

Named for the Greek words for iron and germ, sideroblastic anemia is one of the principal types of iron-utilization anemia. Abnormal, iron-saturated red cells are present in the blood of people who have this disease. Although the iron circulates normally from the plasma to the bone marrow, where new red blood cells are created, it is not properly incorporated into new red blood cells.

Sideroblastic anemia can be inherited, but the disease is usually acquired as a result of illness or exposure to toxic substances.

Sideroblastic anemia is a disease of adults.

Causes and symptoms

The cause of sideroblastic anemia cannot always be identified. Drug toxicity, alcohol abuse, and lead poisoning are common causes of this condition.

Sideroblastic anemia is also associated with:

• leukemia
• lymphoma (cancer of the lymph glands)
• myeloma (cancer of the bone marrow)
• rheumatoid arthritis, and other inflammatory diseases

Symptoms of sideroblastic anemia are the same as symptoms of the disease that causes the condition, as well as anemia

Complications

Possible complications of sideroblastic anemia include:

• congestive heart failure
• diabetes mellitus
• enlargement of the liver and spleen
• formation of liver nodules and scar tissue
• irregular heartbeat
• recurring inflammation of the sac that surrounds the heart
• secondary hypopituitarism (dwarfism)
• skin darkening
• underactivity of the thyroid gland

Diagnosis

Blood tests are used to examine the appearance and other characteristics of red cells and to measure the amount of iron in the blood. Bone marrow biopsy is also used.

Treatment

Acquired sideroblastic anemia may be cured when the condition that causes it is treated or removed.

If the cause of a patient's anemia cannot be determined, blood transfusions may be necessary. Medications are prescribed to stimulate excretion or excess iron that accumulates as a result of these transfusions.

In rare instances, treatment with oral pyridoxine (a B-complex vitamin) benefits patients whose sideroblastic anemia was present at birth. This treatment improves the condition of some patients but does not cure the anemia.

Prognosis

Sideroblastic anemia of unknown origin may lead to leukemia. It may take as long as 10 years for this disease progression to take place.

Resources

Organizations

Leukemia Society of America, Inc. 600 Third Ave., New York, NY 10016. (800) 955 4572. http://www.leukemia.org.

National Heart, Lung and Blood Institute. P.O. Box 30105, Bethesda, MD 20824-0105. (301) 251-1222. http://www.nhlbi.nih.gov.

National Organization for Rare Disorders. P.O. Box 8923, New Fairfield, CT 06812-8923. (800) 999-6673. http://www.rarediseases.org.

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anemia /ane·mia/ (ah-ne´me-ah) reduction below normal of the number of erythrocytes, quantity of hemoglobin, or the volume of packed red cells in the blood; a symptom of various diseases and disorders.ane´mic

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achrestic anemia  any of various types of megaloblastic anemia resembling pernicious anemia but unresponsive to therapy with vitamin B12.

aplastic anemia  a diverse group of anemias characterized by bone marrow suppression with replacement of the hematopoietic cells by fat, which causes pancytopenia, often accompanied by granulocytopenia and thrombocytopenia.

autoimmune hemolytic anemia  AIHA; a general term covering a large group of anemias involving autoantibodies against red cell antigens; they may be idiopathic or may have any of a number of causes, including autoimmune disease, hematologic neoplasms, viral infections, or immunodeficiency disorders.

aregenerative anemia  anemia characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all.

Blackfan-Diamond anemia  congenital hypoplastic a. (1).

congenital hypoplastic anemia 

1. a progressive anemia of unknown etiology seen in the first year of life, with deficiency of red cell precursors in an otherwise normally cellular bone marrow; it is unresponsive to hematinics.

2. Fanconi's syndrome (1).

congenital nonspherocytic hemolytic anemia  any of a heterogeneous group of inherited anemias characterized by shortened red cell survival, lack of spherocytosis, and normal osmotic fragility with erythrocyte membrane defects, multiple intracellular enzyme deficiencies or other defects, or unstable hemoglobins.

Cooley's anemia  thalassemia major.

drug-induced immune hemolytic anemia  immune hemolytic anemia produced by drugs, classified as the penicillin type, in which the drug induces the formation of specific antibodies; the methyldopa type, in which the drug induces the formation of anti-Rh antibodies; and the stibophen type, in which circulating drug-antibody complexes bind to red cells.

equine infectious anemia  a viral disease of equines, with recurring malaise and abrupt temperature rises, weight loss, edema, and anemia; transmission to humans has been suggested, in whom it causes anemia, neutropenia, and relative lymphocytosis.

Fanconi's anemia  Fanconi's syndrome (1).

hemolytic anemia  any of a group of acute or chronic anemias, inherited or acquired, characterized by shortened survival of mature erythrocytes and inability of bone marrow to compensate for the decreased life span.

hereditary iron-loading anemia  hereditary sideroblastic a.

hereditary sideroachrestic anemia  hereditary sideroblastic a.

hereditary sideroblastic anemia  an X-linked anemia characterized by ringed sideroblasts, hypochromic, microcytic erythrocytes, poikilocytosis, weakness, and later by iron overload.

hookworm anemia  hypochromic microcytic anemia resulting from infection with Ancylostoma or Necator; see also under disease.

hypochromic anemia  that characterized by a disproportionate reduction of red cell hemoglobin and an increased area of central pallor in the red cells.

hypoplastic anemia  that due to varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.

iron deficiency anemia  a form characterized by low or absent iron stores, low serum iron concentration, low transferrin saturation, elevated transferrin, low hemoglobin concentration or hematocrit, and hypochromic, microcytic red blood cells.

macrocytic anemia  a group of anemias of varying etiologies, marked by larger than normal red cells, absence of the customary central area of pallor, and an increased mean corpuscular volume and mean corpuscular hemoglobin.

Mediterranean anemia  thalassemia major.

megaloblastic anemia  any anemia characterized by megaloblasts in the bone marrow, such as pernicious a.

microcytic anemia  that marked by decrease in size of the red cells.

myelopathic anemia , myelophthisic anemia leukoerythroblastosis.

normochromic anemia  anemia in which the hemoglobin content of the red cells as measured by the MCHC is in the normal range.

normocytic anemia  that marked by a proportionate decrease in the hemoglobin content, the packed red cell volume, and the number of erythrocytes per cubic millimeter of blood.

pernicious anemia  megaloblastic anemia, most commonly affecting older adults, due to failure of the gastric mucosa to secrete adequate and potent intrinsic factor, resulting in malabsorption of vitamin B12.

polar anemia  an anemic condition that occurs during exposure to low temperature; initially microcytic, but subsequently becoming normocytic.

pure red cell anemia  anemia characterized by absence of red cell precursors in the bone marrow; the congenital form is called congenital hypoplastic a.

refractory normoblastic anemia  refractory sideroblastic a.

refractory sideroblastic anemia  a sideroblastic anemia clinically similar to the hereditary sideroblastic form but occurring in adults and often only slowly progressive. It is unresponsive to hematinics or to withdrawal of toxic agents or drugs and may be preleukemic.

sickle cell anemia  an autosomal dominant type of hemolytic anemia, seen primarily in those of West African descent, and less often in the Mediterranean basin and a few other areas; it is caused by hemoglobin S with abnormal erythrocytes (sickle cells) in the blood. Homozygous individuals have the full-blown syndrome with accelerated hemolysis, increased blood viscosity and vaso-occlusion, arthralgias, acute attacks of abdominal pain, and ulcerations of the lower limbs; some have periodic attacks of sickle cell crises. The heterozygous condition is called sickle cell trait and is usually asymptomatic.

sideroachrestic anemia  sideroblastic a.

sideroblastic anemia  any of a group of anemias that may have diverse clinical manifestations; commonly characterized by large numbers of ringed sideroblasts in the bone marrow, ineffective erythropoiesis, variable proportions of hypochromic erythrocytes in the peripheral blood, and usually increased levels of tissue iron.

sideropenic anemia  a group of anemias marked by low levels of iron in the plasma; it includes iron deficiency anemia and the anemia of chronic disorders.

spur cell anemia  anemia in which the red cells have a bizarre spiculated shape and are destroyed prematurely, primarily in the spleen; it is an acquired form occurring in severe liver disease and represents an abnormality in the cholesterol content of the red cell membrane.

toxic hemolytic anemia  that due to toxic agents, including drugs, bacterial lysins, and snake venoms.

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sid·er·o·blas·tic anemia (sdr--blstk)

n.

Refractory anemia marked by sideroblasts in the bone marrow. Also called sideroachrestic anemia.

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sideroblastic anemia

[sid′ərōblas′tik]

Etymology: Gk, sideros, iron, blastos, germ

a heterogeneous group of chronic hematologic disorders characterized by normocytic or slightly macrocytic anemia, hypochromic and normochromic red blood cells, and decreased erythropoiesis and hemoglobin synthesis. The red blood cells contain a perinuclear ring of iron-stained granules. The condition may be acquired or hereditary and may be primary or secondary to another condition. The cause of the disease is not understood. Treatment may include extract of liver, pyridoxine, folic acid, and blood transfusion. Also spelled sideroblastic anaemia. Compare iron deficiency anemia, siderosis.