Congenital pernicious anemia

Congenital Pernicious Anemia is a rare and inherited form of pernicious anemia, a condition characterized by the inability of the body to absorb vitamin B12 from the gastrointestinal tract. This condition is essential for the production of healthy red blood cells and for neurological function. Congenital pernicious anemia is caused by a genetic mutation that affects the production of intrinsic factor, a protein necessary for the absorption of vitamin B12.

Causes and Genetics

Congenital pernicious anemia is caused by mutations in the GIF gene, which is responsible for the production of intrinsic factor. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disease.

Symptoms

The symptoms of congenital pernicious anemia are similar to those of other forms of vitamin B12 deficiency and may include fatigue, weakness, pallor, shortness of breath, and neurological symptoms such as numbness and tingling in the hands and feet. In severe cases, untreated vitamin B12 deficiency can lead to irreversible neurological damage.

Diagnosis

Diagnosis of congenital pernicious anemia involves a combination of clinical evaluation, laboratory tests, and genetic testing. Laboratory tests may show megaloblastic anemia, low levels of vitamin B12 in the blood, and the presence of antibodies against intrinsic factor or gastric parietal cells in cases of acquired rather than congenital pernicious anemia.

Treatment

Treatment for congenital pernicious anemia involves lifelong supplementation of vitamin B12, usually through injections or high-dose oral supplements. This treatment is necessary to prevent anemia and neurological complications.

Prognosis

With early diagnosis and appropriate treatment, individuals with congenital pernicious anemia can lead normal, healthy lives. However, lifelong adherence to vitamin B12 supplementation is essential to prevent complications.