tailieunhanh - Chapter 101. Hemolytic Anemias and Anemia Due to Acute Blood Loss (Part 9)

Pyruvate Kinase Deficiency: Treatment Management of PK deficiency is mainly supportive. In view of the marked increase in red cell turnover, oral folic acid supplements should be given constantly. Blood transfusion should be used as necessary, and iron chelation may have to be added if the blood transfusion requirement is high enough to cause iron overload. In these patients, who have more severe disease, splenectomy may be beneficial. There is a single case report of curative treatment of PK deficiency by bone marrow transplantation from an HLA-identical PK normal sib: this seems a viable option for severe cases when. | Chapter 101. Hemolytic Anemias and Anemia Due to Acute Blood Loss Part 9 Pyruvate Kinase Deficiency Treatment Management of PK deficiency is mainly supportive. In view of the marked increase in red cell turnover oral folic acid supplements should be given constantly. Blood transfusion should be used as necessary and iron chelation may have to be added if the blood transfusion requirement is high enough to cause iron overload. In these patients who have more severe disease splenectomy may be beneficial. There is a single case report of curative treatment of PK deficiency by bone marrow transplantation from an HLA-identical PK normal sib this seems a viable option for severe cases when a sib donor is available. Other Glycolytic Enzyme Abnormalities All of these defects are rare to very rare Table 101-4 and all cause HA of varying degrees of severity. It is not unusual for the presentation to be in the guise of severe neonatal jaundice which may require exchange transfusion if the anemia is less severe it may present later in life or may even remain asymptomatic and be detected incidentally when a blood count is done for unrelated reasons. The spleen is often enlarged. When other systemic manifestations occur they involve the central nervous system sometimes entailing severe mental retardation particularly in the case of triose phosphate isomerase deficiency or the neuromuscular system or both. The diagnosis of HA is usually not difficult thanks to the triad of normo-macrocytic anemia reticulocytosis and hyperbilirubinemia. Enzymopathies should be considered in the differential diagnosis of any chronic Coombs-negative HA. In most cases of glycolytic enzymopathies the morphologic abnormalities of red cells characteristically seen in membrane disorders are absent. A definitive diagnosis can be made only by demonstrating the deficiency of an individual enzyme by quantitative assays carried out in only a few specialized laboratories. If a particular molecular abnormality

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