Anemia due to impaired synthesis of porphins
A hereditary impairment of porphyrin synthesis is more common in men, since inheritance is linked to the X chromosome, and in men this chromosome is present in the singular. Less often, the disease can be transmitted through an autosomal recessive type of inheritance. This form of the disease is also found in women.
The substance protoporphyrin binds to iron, resulting in the formation of heme. Hem is an integral part of hemoglobin, which is formed by binding a subject with a protein globin. Violation of the formation of protoporphyrin causes the impossibility of binding of iron and, as a result, its accumulation in the body. If iron enters mainly into the liver, then its cirrhosis develops. When depositing iron in the pancreas, there is diabetes mellitus. The accumulation of iron in the testes leads to eunuchoidism, in the adrenal glands - to adrenal insufficiency. The deposition of iron in the cardiac muscle determines the development of circulatory insufficiency of varying severity.
Manifestations of the disease depend on the severity of anemia. As a rule, the first manifestation is a feeling of weakness and increased fatigue. Since childhood in the study of blood, moderate anemia is detected. Over the years, anemia is progressing. Gradually begin to appear signs of excessive deposition of iron in the body. Excessive muscle weakness may develop. In some cases, signs of diabetes mellitus are formed, in some people with anemia there are periodic abdominal pains, unpleasant sensations in the right hypochondrium, shortness of breath, edema on the legs, increased palpitations. Externally, you can see the darkening of the skin. When a medical examination reveals an increase in the size of the liver, and sometimes the spleen.
Anemia in adolescence in most cases is relatively small - the hemoglobin content is 80-90 g / l, but its amount gradually decreases, reaching 40-60 g / l. The content of reticulocytes( the shape of young, not yet fully formed red blood cells) is usually normal or somewhat reduced. The content of leukocytes and platelets remains normal until severe liver changes develop. The iron content in serum is significantly increased in comparison with normal values. A part of people suffering from anemia associated with impaired synthesis of porphyrins, increased blood sugar, which is associated with the deposition of iron in the pancreas.
Treatment of hereditary anemia, associated with a violation of the activity of enzymes involved in the synthesis of porphyrins, usually begin with vitamin B6.In animals with a deficiency of vitamin B6, in addition to various inflammatory processes on the skin, inflammation of the tongue and damage to the nervous system, anemia develops with an increase in iron content in the blood serum and iron deposition in the organs. For the first time, vitamin B6 was used to treat anemia associated with impaired synthesis of porphyrins in 1956. A good effect was obtained. Doses of vitamin B6 for the treatment of this disease should be large( 6% solution of 5-8 ml / day).More effective than vitamin B6 is pyridoxal phosphate. It is available in tablets of 20 mg and in ampoules of 10 mg. This drug is administered at 30-40 mg / day intramuscularly or taken internally at 80-120 mg / day. It acts faster than vitamin B12.
To remove iron from the body, it is necessary to take desferal for a long time in a dose of 500 mg / day. It is advisable 3-6 times a year to undergo monthly courses of treatment with this medication. Sometimes treatment with desferal only leads to recovery. The prognosis for this type of anemia is satisfactory if the effect of vitamin B12 or pyridoxal phosphate has an effect and desferal is used, and is significantly worse with untimely started treatment and irreversible changes associated with excessive deposition of iron in internal organs.