Hereditary hemolytic anemia

Hereditary Hemolytic Anemia Associated with Red Blood Cell Enzyme Deficiency. 14... 

Red Blood Cell Enzyme Anomalies Associated with Hereditary Hemolytic Anemia... 

On the other hand, a deficiency of aldolase A is a rare cause of hereditary hemolytic anemia. Only three families with aldolase A deficiency have been reported. In the first case, hereditary nonspherocytic hemolytic anemia, many dysmorphic features and mental and growth retardation were observed (B13). The second family had only hemolysis but no signs of myopathy (M24). The third case had both hemolytic anemia and predominantly myopathic symptoms (K25). 

Hereditary deficiency of phosphoglycerate kinase (PGK) is associated with hereditary hemolytic anemia and often with central nervous system dysfunction and/or myopathy. The first case, reported by Kraus et al. (K24), is a heterozygous female, and the results are not so clear. The second family, reported by Valentine et al. (V3), is a large Chinese family, whose pedigree study indicates that PGK deficiency is compatible with X-linked inheritance. To date, 22 families have been reported (04, T25, Y3). Nine of these have manifested both symptoms five have shown only hemolysis seven have shown the central nervous system dysfunction and/or myopathy but without hemolysis and one case, PGK Munchen, is without clinical symptoms (F5). PGK II is an electrophoretic variant found in New Guinea populations (Y2). Red blood cell enzyme activity, specific activity, and the kinetic properties of this polymorphic variant are normal. 

Markedly increased adenosine deaminase (ADA) activity in red blood cells develops into hereditary hemolytic anemia. The mode of inheritance is autosomal dominant. Only four families have been reported so far, including our two (K3,... 

Red blood cell enzyme activities are measured mainly to diagnose hereditary nonspherocytic hemolytic anemia associated with enzyme anomalies. At least 15 enzyme anomalies associated with hereditary hemolytic anemia have been reported. Some nonhematologic diseases can also be diagnosed by the measurement of red blood cell enzyme activities in the case in which enzymes of red blood cells and the other organs are under the same genetic control. 

B10. Baughan, M. A., Valentine, W. N., Paglia, D. E., Ways, P. O., Simon, E. R and DeMarsh, Q. B Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency—A new enzyme defect of human erythrocytes. Blood 32,236-249 (1969). 

F6. Fujii, H., Miwa, S., and Suzuki, K., Purification and properties of adenosine deaminase in normal and hereditary hemolytic anemia with increased red cell activity. Hemoglobin 4,693-705 (1980). 

K5. Kanno, H Fujii, H Hirono, A., Omine, M., and Miwa, S., Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood 79, 1347-1350 (1992). 

K12. Kanno, H Wei, D. C, C Chan, L. C., Mizoguchi, H., Ando, M., Nakahata, T Narisawa, K., Fujii, H., and Miwa, S., Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong. Blood 84,3505-3509 (1994). 

M22. Miwa, S., Fujii, H Matsumoto, N Nakatsuji, T., Oda, S., Asano, H Asano, S., and Miura, Y A case of red-cell adenosine deaminase overproduction associated with hereditary hemolytic anemia found in Japan. Am. J. Hematol. 5, 107-115 (1978). 

M28. Miwa, S and Fujii, H., Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia Tabulation of mutant enzymes. Am. J. Hematol. 51,122-132 (1996). 

Garson, O. M., Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. New Engl. J. Med. 280,528-534 (1969). 

V4. Valentine, W. N., Fink, K Paglia, D. E., Harris, S. R., and Adams, W. S., Hereditary hemolytic anemia with human erythrocyte pyrimidine 5 -nucleotidase deficiency. J. Clin. Invest. 54, 866-879 (1974). 

A different problem results from deficiency of enzymes of glycolysis such as phosphofructokinase (see Box 20-D), phosphoglycerate rnutase, and pyruvate kinase. Lack of one isoenzyme of phosphoglycerate rnutase in muscle leads to intolerance to strenuous exercise/ A deficiency in pyruvate kinase is one of the most common defects of glycolysis in erythrocytes and leads to a shortened erythrocyte lifetime and hereditary hemolytic anemia.s... 

Chottiner EG, Cloft HJ, Tartaglia AP, Mitchell BS. Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of protein synthesis. J Clin Invest 1987 79 1001-5. 

Valentine WN, Paglia DE, Tartaglia AP, Gilsanz E Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate. Science 1977 195 783-5. 

Thalassemia A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with chnical pictures ranging from barely detectable hematologic abnormahty to severe and fatal anemia, [nih]... 

Pauling, L. Abnormality of hemoglobin molecules in hereditary hemolytic anemias (Harvey Lecture, April 1954). In The Harvey Lectures, 1953-1954, Series 49, Academic Press, New York, pp.216-241, 1955. 

Itano, H.A. A third abnormal hemoglobin associated with hereditary hemolytic anemia. Proc. Nat Acad Scl PSA 37 775, 1951. 

Abnormality of Hemoglobin Molecules in Hereditary Hemolytic Anemias... 

ABNORMALITY OF HEMOGLOBIN MOLECULES IN HEREDITARY HEMOLYTIC ANEMIAS ... 

A summary of the hereditary hemolytic anemias related to abnormal hemoglobins is presented in Fig. 6. There are five forms of... 

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