Hemolytic anemia is enzymatically determined hemolytic anemia, caused by pyruvate kinase deficiency. The pyruvate kinase has four isoenzymes – type M1, type M2, type L and type R. The molecules of the pyruvate kinase type M1 and M2 are synthesized under the direction of the dominant gene in the long arm of chromosome 15, while the type L and R in chromosome 1. The first is type M1, which reflects the muscles, heart and brain, while M2 affects in the leukocytes and trobocytes. The pyruvate kinase type L affects the liver and the R type reflects of the erythrocytes. The disease is inherited in an autosomal recessive manner. The heterozygotes carriers are clinically healthy.
The Hemolytic anemia symptoms are various, which can be easily defined on first sight. The first and basic symptoms are the same as the all anemia disease, but in the future development of the disease the type is easily observed. Anemia is tolerated relatively easy by the patient, because of the right shift of the dissociation curve of oxy-hemoglobin. This is due to the high content of 2,3-difosfoglitserat in erythrocytes. The main Hemolytic anemia symptoms are:
• Pale skin and mucous membranes
• Weakness and fatigue
• Yellowing of the sclera and skin, splash-and hepatomegaly
• Neonatal jaundice
All the symptoms of Hemolytic anemia are unique in comparison with other disease, so have these symptoms you should consult with doctor for further diagnosis and laboratory tests. The laboratory tests will give better view over the blood and the substances in it. Usually in laboratory is examined that the hemoglobin, erythrocytes, hematocrit are decreased and the reticulocytes are with increased value. The further tests are showing the increased indirect bilirubin, decreased serum haptoglobin is, serum iron is normal or elevated. By specific enzymatic test also can be checked the PK-deficiency.
The diagnosis is made over the data of symptoms, tests and examinations. The certain diagnosis is given only by demonstration of decreased activity of the PK in erythrocytes. The differential diagnosis can be done hereditary micro-spherocytosis, thalassemia, G6PD deficiency and hemolytic anemia with any and all cases of icteric syndrome. The proper diagnosis of the anemia disease definitely will help to your health and will make the treatment more successful and less painful.