$Unique_ID{BRK03467} $Pretitle{} $Title{Anemia, Sideroblastic} $Subject{Anemia Sideroblastic Idiopathic Refractory Sideroblastic Anemia Iron Overload Anemia Sideroblastosis Thalassemia Minor Thalassemia Major Cooley's Anemia Idiopathic Hemochromatosis National March} $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 351: Anemia, Sideroblastic ** IMPORTANT ** It is possible the main title of the article (Sideroblastic Anemia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Idiopathic Refractory Sideroblastic Anemia Iron Overload Anemia Sideroblastosis Information on the following diseases can be found in the Related Disorders section of this report: Thalassemia Minor Thalassemia Major, also known as Cooley's Anemia Idiopathic Hemochromatosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sideroblastic Anemias are a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with these types of anemia. Symptoms Sideroblastic Anemias are characterized by general weakness, fatigue and difficulty breathing. When making a physical effort, persons with this disorder may feel angina-like chest pains. More common forms of anemia are caused by low levels of iron in the blood. In people with Sideroblastic Anemias, an abnormally high level of iron and iron-containing substances is found in the blood serum. The mucous membranes and the skin of hands and arms of persons with Sideroblastic Anemias may look pale, often lemon-yellow colored. Rarely, a brownish red discoloration caused by bleeding under the skin may occur. Enlargement of the spleen or liver are other symptoms of these disorders. Acute leukemia may develop in about 10% of cases as a complication of advanced Sideroblastic Anemias. Causes The exact cause of the Sideroblastic Anemias is unknown. The disorder may be due to a failure of the bone marrow to produce normal red blood cells, or to the inability of the body to utilize appropriately the iron available in the red blood cells for the manufacture of hemoglobin. Congenital forms of Sideroblastic Anemia may be sex-linked or autosomal recessive hereditary disorders. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Acquired forms of Sideroblastic Anemia may be caused by excessive alcohol consumption, or as a side effect of drugs such as anti-tuberculosis agents, or the antibiotic drug chloramphenicol. The anemia may also occur as a symptom of various other disorders such as granulomatous diseases, tumors, or rheumatoid arthritis. Affected Population Sideroblastic Anemias are very rare disorders. They are more commonly found in older persons. Related Disorders There are many types of anemia. They are characterized by decreased red blood cell and/or hemoglobin content in the blood. Anemia decreases the ability to absorb oxygen from the lungs. A person with severe anemia usually suffers from weakness, dizziness, headache, ringing in the ears (tinnitus), spots before the eyes, fatigue, drowsiness, irritability, or even bizarre behavior. Absence of menstrual flow in women, loss of sexual drive, gastrointestinal complaints, or sometimes jaundice or an enlarged spleen may also be found in some forms of anemia. Finally, congestive heart failure may occur in severe cases. Thalassemia Minor and Major are two hereditary anemias. Thalassemia Minor is the milder form of the two. Thalassemia Major (Cooley's Anemia) belongs to a group of chronic, familial hemolytic anemias found in persons with heritage from the Mediterranean basin. It is characterized by a marked increase in F hemoglobin and decreased synthesis of the beta polypeptide chains in the hemoglobin molecule. Symptoms include a decrease in the number of red blood cells, a generalized weakness, a vague feeling of malaise, indigestion and palpitations. Idiopathic Hemochromatosis is a hereditary disorder of iron metabolism characterized by excess deposits of iron in the tissues, especially in the liver, pancreas, and heart, and by bronze-colored pigmentation of the skin. Cirrhosis of the liver, diabetes mellitus, and associated bone and joint changes may also occur. For more information on the above disorders, choose "Thalassemia" and "Hemochromatosis" as your search terms in the Rare Disease Database. Therapies: Standard To remove excess iron from the body of persons with Sideroblastic Anemia, the drug desferrioxamine (D.F.) is infused under the skin (subcutaneously) or injected into a muscle (intramuscular), often with good results. A combination of desferrioxamine with ascorbate has been even more effective in removing excess iron from the body in many cases. Some forms of Sideroblastic Anemia may respond well to treatment with pyridoxine, while other types do not respond at all. Therapies: Investigational This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sideroblastic Anemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Leukemia Society of America 733 Third Avenue New York, NY 10017 (212) 573-8484 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References EFFECT OF DOSE, TIME, AND ASCORBATE ON IRON EXCRETION AFTER SUBCUTANEOUS DESFERRIOXAMINE: M. A. Hussein et. al.; Lancet (May 7, 1977: issue 1,8019). Pp. 977-979. IDIOPATHIC REFRACTORY SIDEROBLASTIC ANEMIA, INCIDENCE AND RISK FACTORS FOR LEUKEMIA TRANSFORMATION: D. S. Chang et al.; Cancer (August 1979: issue 44,2). Pp. 724-731.