Is Pernicious Anemia Hereditary?

Question by Rosie H: Is pernicious anemia hereditary?
I need to know because of a book I’m writing


Best answer:

Answer by karli
Here is some more info for you

Pernicious anemia is caused by a lack of intrinsic factor, a substance needed to absorb vitamin B12 from the gastrointestinal tract. Vitamin B12 is necessary for the formation of red blood cells.

Anemia is a condition where red blood cells are not providing adequate oxygen to body tissues. There are many types and causes of anemia. See also: Anemia .

Pernicious anemia is a type of megaloblastic anemia .

Alternative Names:
Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B12 deficiency (malabsorption)

Causes, incidence, and risk factors:
Intrinsic factor is a protein that helps the body absorb vitamin B12. When stomach secretions do not have enough intrinsic factor, vitamin B12 is not absorbed well. This results in pernicious anemia and other problems related to low levels of vitamin B12.

Nerve and blood cells need vitamin B12 to function properly, so deficiency can cause a wide variety of symptoms, including fatigue, shortness of breath, tingling sensations, difficulty walking, and diarrhea.

Other causes of low levels of intrinsic factor (and thus of pernicious anemia) include atrophic gastric mucosa, autoimmunity against gastric parietal cells, and autoimmunity against intrinsic factor.

Absence of intrinsic factor itself is the most common cause of vitamin B12 deficiency. Intrinsic factor is produced by cells in the stomach. In adults, the inability to make intrinsic factor can be the result of chronic gastritis or the result of surgery to remove the stomach. The onset of the disease is slow and may take decades.

Very rarely, infants and children are born lacking the ability to produce effective intrinsic factor. This form of congenital (born with) pernicious anemia is inherited as an autosomal recessive disorder (you need a defective gene from each parent to get it). Most often, however, pernicious anemia and other forms of megaloblastic anemia in children results from other causes of vitamin B12 deficiency or other vitamin deficiencies.

Although a form of the disease can occur in children, pernicious anemia usually does not appear before age 30. The average age at diagnosis is 60. In fact, one recent study revealed that nearly 2% of individuals over 60 have pernicious anemia. Slightly more women than men are affected. The disease occurs in all racial groups, but occurs most often in people of Scandinavian or Northern European descent.

Risk factors include a family history of pernicious anemia, Scandinavian or Northern European descent, and a history of autoimmune endocrine disorders. Pernicious anemia is seen in association with some autoimmune endocrine diseases such as type 1 diabetes, hypoparathyroidism , Addison’s disease , hypopituitarism , testicular dysfunction, Graves disease , chronic thyroiditis , myasthenia gravis , secondary amenorrhea, and vitiligo .

In addition to pernicious anemia, other causes of vitamin B12 deficiency include:

Nutrition (strict vegetarians without B12 supplementation, poor diet in infant, or poor maternal nutrition during pregnancy)
Infection (intestinal parasites, bacterial overgrowth)
Gastrointestinal disease [stomach removal surgery, celiac disease (sprue), Crohn’s disease]
Drugs (colchicine, neomycin, tuberculosis treatment with para amino salicylic acid)
Metabolic disorders (methylmalonic aciduria, homocystinuria)

Megaloblastic anemia – view of red blood cells

Review Date: 10/31/2005
Reviewed By: William Matsui, MD, Assistant Professor of Oncology, Division of Hematologic Malignancies, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD. Review provided by VeriMed Healthcare Network.
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