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About Your Diagnosis Pernicious anemia is deficiency of red blood cells and hemoglobin that results from a deficiency or abnormal absorption of cobalamin (vitamin B12). This vitamin is essential for normal growth and development of red blood cells, other blood cells, and cells of the nervous system. Insufficient intake of vitamin B12 rarely causes anemia. Most frequently, absence of a specific protein, intrinsic factor, necessary for absorption of vitamin B12 causes pernicious anemia. This occurs when the immune system attacks the cells of the stomach lining and prevents them from producing intrinsic factor. Other mechanisms include absence of the stomach or small intestine after an operation, tapeworm infestation, or tropical sprue. Pernicious anemia is rare. Both sexes are affected equally. This form of anemia rarely occurs before 30 years of age. It is more common among persons of northern European descent. The diagnosis of pernicious anemia is made by means of microscopic examination of the blood and measurement of vitamin B12 and the products of its breakdown in the blood. Special tests may be needed to observe abnormal absorption of the vitamin (Schilling test) and document the presence of specific antibodies. Supplementation of vitamin B12 leads to full correction of anemia. Patients with deficient absorption of the vitamin need long-term supplementation. Living With Your DiagnosisAnemia becomes apparent as fatigue and poor exercise tolerance. In severe cases anemia can cause chest pain, shortness of breath, and a rapid heartbeat. Patients with pernicious anemia, however, almost never need blood transfusions. Deficiency of vitamin B12 can produce decreased sensation and numbness in the feet and hands. Severe deficiency can cause severe neurologic deficits, such as confusion and disorientation, but this is rare. TreatmentTherapy for pernicious anemia is administration of vitamin B12 as injections under the skin or into the muscle. Initial treatment involves daily injections followed by weekly and eventually monthly injections. Improvement in the sense of well-being occurs in a matter of days. It takes 4 to 8 weeks to demonstrate an increase in hemoglobin concentration. Treatment is lifelong. Patients with insufficient intake can take oral vitamin B12. There are no known side effects or complications of taking vitamin B12. Vitamin B12 is also available as a gel solution for intranasal administration (Nascobal), which is administered via a metered dose nasal inhaler once weekly in place of monthly injections. Intranasal administration for maintenance therapy of pernicious anemia should be used only after the initial deficiency has been corrected with vitamin B12 injections. Medical supervision is necessary for the initial treatment with vitamin B12, because lowering of blood potassium level may occur. A simple blood test can determine this. Potassium taken as a pill corrects this temporary problem. The DOs
National Heart, Lung, and Blood Institute Information Center P.O. Box 30105 Bethesda, MD 20825-0105 301-251-1222 MedWeb Hematology http://www.gem.emory.edu/medweb.hematology.html MedMark Hematology http://medmark.bit.co.kr/hematol.html
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