National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Anemia, Pernicious is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Congenital Pernicious Anemia due to Defect of Intrinsic Factor
- Gastric Intrinsic Factor, Failure of Secretion
- Enterocyte Cobalamin Malabsorption
- Enterocyte Intrinsic Factor Receptor, Defect of
- Adult Onset Pernicious Anemia
- Juvenile Intestinal Malabsorption of Vit B12
Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells. Most cases result from the lack of the gastric protein known as intrinsic factor, without which vitamin B12 cannot be absorbed.
The symptoms of pernicious anemia may include weakness, fatigue, an upset stomach, an abnormally rapid heartbeat (tachycardia), and/or chest pains. Recurring episodes of anemia (megaloblastic) and an abnormal yellow coloration of the skin (jaundice) are also common. Pernicious anemia is thought to be an autoimmune disorder, and certain people may have a genetic predisposition to this disorder.
There is a rare congenital form of pernicious anemia in which babies are born lacking the ability to produce effective intrinsic factor. There is also a juvenile form of the disease, but pernicious anemia typically does not appear before the age of 30. The onset of the disease is slow and may span decades. When the disease goes undiagnosed and untreated for a long period of time, it may lead to neurological complications. Nerve cells and blood cells need vitamin B12 to function properly.
Arc (a national organization on mental retardation)
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American Autoimmune Related Diseases Association, Inc.
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NIH/National Heart, Lung and Blood Institute
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Genetic and Rare Diseases (GARD) Information Center
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Autoimmune Information Network, Inc
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European Society for Immunodeficiencies (ESID)
c/o Dr. Bodo Grimbacher (ESID Board Member)
Division of Rheumatology and Clinical Immunology
Department of Medicine, University Hospital Freiburg
Hugstetter Strasse 55
Tel: +31 73-6992965
Fax: +31 73-6992948
Tel: (919) 552-9057
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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html