Pernicious Anemia

Also known as megaloblastic anemia, pernicious  anemia (PA) is caused by impaired absorption of vitamin B(12) and  cobalamine as the result of deficiency of two substances orinarily  present in our stomach, intrinsic factor and hydrochloric acid. The  congenital form is rare in comparison with the acquired adult onset  type. It is autsomal recessive and follows the usual heritable pattern,  present before the age of 2 years. It is a genetic problem which  prevents infants from absorbing folic acid. Early intensive treatment is required to prevent long term problems, such as mental retardation  related to B(12) deficiency. Symptoms can include pale skin, poor  appetite, easy fatigue, diarrhea, difficulty in walking, and a smooth,  tender tongue. As these symptoms can occur in other medical conditions,  consultation with the child’s pediatrician is important to confirm the  diagnosis. The diagnostic criteria are well established and do not  require DNA analyses, but involve blood and bone marrow studies plus the Schilling test, which compares results from isotope-labeled and  unlabeled vitamin B(12). PA is considered an autoimmune disorder,  related to genetic deficiencies.
Adult PA is most common in  Scandinavians, English and Irish, where up to .13 to .20 of the  population are diseased. It involves all ethnic groups but is less  common in Caucasians of Italian and Greek descent, rare in blacks and  Asians, and it is often seen in females. The mean age of onset in whites is 60 years, in blacks 50 years.


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