Sideroblastic anemia in children

Anemia associated with impaired synthesis or utilization of porphyrins (sidero-sacramental, sideroblastic anemia) is a heterogeneous group of diseases, hereditary and acquired, is associated with a disruption in the activity of enzymes involved in the synthesis of porphyrins and heme. The term "sideroachrestic anemia" was introduced by Heylmeyer (1957). With sideroahrestic anemia, the serum level of iron is elevated. In the bone marrow, ringed sideroblasts are found-nucleated red blood cells with a pericircular aureole consisting of coarse granules of hemosiderin and representing iron-filled mitochondria.

[1], [2]

The causes of sidero-achestic anemia

Hereditary forms

Transmitted by recessive, linked to the X-chromosome (sick men) or autosomal-dominant type (sick men and women).

The metabolic block can be at the step of forming delta-aminolevulinic acid from glycine and succinyl CoA. This reaction requires pyridoxal phosphate, an active coenzyme of pyridoxine and synthetase of aminolevulinic acid.

Purchased forms

Acquired forms of anemia associated with impaired synthesis of porphyrins may be due to lead poisoning.

Household lead intoxication in pediatric practice is quite common. They arise when eating foods stored in tinned or earthenware with the glaze of handicraft production. Lead poisoning is most often caused by the ingestion of lead paints, plasters, other materials saturated with lead dyes (newspapers, gypsum, gravel, lead content greater than 0.06%), home dust and soil particles (lead content 500 mg / kg) . From the atmosphere, lead comes not only by inhalation; most often it is deposited and enters the body with dust and soil particles. In infants, lead poisoning occurs when contaminated water is used to prepare milk mixtures. Toxication can lead to non-compliance with the necessary precautions when smelting lead at home.

The causes of sideroblastic anemia

Diagnosis of sidero-achestic anemia

The diagnosis of hereditary forms of anemia is confirmed by the study of the content of porphyrins in erythrocytes. It was established that the hereditary forms of sidero-achestic anemia decreased the content of protoporphyrin of erythrocytes. The content of coproporphyrin erythrocytes is both elevated and low. Normally, the average level of protoporphyrin of erythrocytes in whole blood is 18 μg%, and the upper limit in the absence of anemia is 35 μg%. To study the content of iron stores and confirm hemosiderosis, a desferase test is used. After intramuscular injection of 500 mg of desferal, normally 0.6-1.2 mg of iron per day is excreted in the urine, and in patients with sideroblastic anemia 5-10 mg / day.

To diagnose lead poisoning, the level of lead in venous blood is determined; the level of protoporphyrin on erythrocytes in whole blood - a level above 100 μg%, usually indicates a toxic effect of lead.

Diagnosis of sideroblastic anemia

[3], [4], [5]

Treatment of sidero-achestic anemia

Treatment of patients with hereditary sidero-achestic anemia

1. Vitamin B ₆ in large doses - 4-8 ml of 5% solution per day intramuscularly. In the absence of effect, the appointment of coenzyme vitamin B ₁₂ - pyridoxal phosphate is indicated . The daily dose of the drug is 80-120 mg with oral administration.
2. Desferal (for binding and excretion from the body of iron) - 10 mg / kg / day monthly courses of 3-6 times a year.

Treatment of sideroblastic anemia

Prophylaxis of lead poisoning

To avoid lead poisoning during the reconstruction of old houses, precautions should be taken by temporarily relocating children. It is especially dangerous to burn and dig in the ground lead paints, they should be scraped off or removed by chemical methods. Monitoring the condition of living quarters, tightening sanitary and building norms reduces the frequency of poisoning.