Anemia due to disorders of porphyrin synthesis

August 12, 2017 17:51 | Genetic Diseases

inherited disorder of porphyrin synthesis is more common in men as well as inheritance is linked to the X chromosome and chromosome in men, this is represented in the singular.Less commonly, the disease can be transmitted in an autosomal recessive inheritance type.This form of the disease occurs in women.

protoporphyrin substance binds with the iron to form heme.Heme is a component of hemoglobin, which is formed by the binding thread with globin protein.Violation protoporphyrin formation makes it impossible to bind iron and thus its accumulation in the body.If iron comes mainly in the liver, then it develops cirrhosis.When deposition of iron in the pancreas appears diabetes.The accumulation of iron in the testicles leads to syndrome, the adrenal glands - to adrenal insufficiency.The deposition of iron in the heart muscle determines the development of circulatory failure of varying severity.

Manifestations of the disease depend on the severity of anemia.As a rule, the first manifestation of a feeling of

weakness and fatigue.Since childhood, the study of blood reveal mild anemia.Over the years, the anemia progresses.Gradually begin to show signs of excessive iron deposits in the body.It may develop severe muscle weakness.In some cases, formed signs of diabetes in some people with anemia periodically appear abdominal pain, discomfort in the right upper quadrant, may be shortness of breath, the appearance of swelling in the legs, heart palpitations.Externally you can see the darkening of the skin.If physical examination reveals an enlarged liver and spleen, sometimes.

Anemia in adolescence in most cases is relatively small - hemoglobin content of 80- 90 g / l, but the amount thereof is gradually reduced, reaching 40- 60 g / l.The content of reticulocytes (young form, is not yet formed erythrocytes) is most often normal or somewhat reduced.The content of leukocytes and thrombocytes remains normal until until develop severe liver changes.The content of iron in serum is significantly elevated compared to normal values.In some people with anemia associated with impaired synthesis of porphyrins, elevated blood sugar that is associated with the deposition of iron in the pancreas.

treatment of hereditary anemia associated with impaired activity of enzymes involved in the synthesis of porphyrins generally begin with vitamin B6.In animals with a deficiency of vitamin B6, in addition to various inflammatory processes in the skin, inflammation of the tongue and damage to the nervous system, anemia develops with increasing iron content in the blood serum and deposition of iron in the organs.For the first time vitamin B6 is used to treat anemia associated with impaired porphyrin synthesis in 1956. This was obtained good effect.Dose of vitamin B6 in the treatment of the disease should be large (6% solution at 8.5 ml / day).Effectiveness of vitamin B6 is pyridoxal phosphate.It is available in tablets of 20 mg and 10 mg capsules.This drug is administered at 30-40 mg / day intramuscularly or are inside of 80-120 mg / day.It is faster than vitamin B12.

for removing iron from the body the drug must be taken for a long time Desferal at a dose of 500 mg / day.It is advisable to 3-6 once a year according to monthly courses of treatment drug.Sometimes only desferalom treatment leads to recovery.The prognosis of this type of anemia is satisfactory, if has the effect of either vitamin B12 and pyridoxal phosphate is used Desferal, and significantly worse at late begun treatment and irreversible changes associated with excessive deposition of iron in the internal organs.