Genetics studies by NGS Panel
Panel for Hereditary Hemolytic Anemias due to red blood cell enzymopathies or Glycogen storage disease (Code 10061)

NGS-10061-v15
ADA AK1 ALDOA BPGM
CYB5R3 G6PD GCLC GPI
GPX1 GSR GSS HK1
NT5C3A PFKM PGK1 PKLR
TPI1

Red blood cells have active anaerobic metabolism using glucose as an energy source. The major metabolic functions include maintaining membrane proteins, preserving iron hemoglobin in the Fe3 + state and modulating the affinity of hemoglobin for oxygen. These functions need the regulation of four components: ATP, NADH, NADPH, and 2,3 diphosphoglycerate. Enzymatic defects in these pathways produce hereditary hemolytic anemias due to red blood cell enzymopathies or glycogen storage disease. Common enzymatic defects include pyruvate kinase (PK) deficiency and glucose 6-phosphate dehydrogenase (G6PD) deficiency. Defects in other enzymes are less frequent and include hexokinase deficiency, glucose phosphate isomerase deficiency, diphosphoglycerate maltose deficiency, glutathione reductase deficiency, glutathione synthetase deficiency, glutathione peroxidase deficiency, gamma-glutamylcysteine synthetase deficiency, 5-nucleotidase pyrimidine deficiency, adenylate kinase 1 deficiency, phosphoglycerate kinase 1 deficiency, tri-phosphate isomerase deficiency 1, glycogen storage disease due to phosphofructo kinase deficiency, glycogen storage disease due to aldolase A deficiency, Overproduction of adenosine deaminase in erythrocytes and hereditary recessive methemoglobinemia type 1 and type 2.

 

G6PD deficiency causes hemolysis in response to oxidative stress such as drugs, dehydration and fever / infection, whereas PK deficiency is characterized by continuous hemolysis due to its activity in the main anaerobic glycolytic pathway.

 

References

 

  • Koralkova P, van Solinge WW, van Wijk R. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia – pathophysiology, clinical aspects, and laboratory diagnosis. Int J Lab Hematol. 36(3):388-97, 2014. [PubMed: 24750686]·    Arya R, Layton DM, Bellingham AJ. Hereditary red cell enzymopathies. Blood Rev. 9(3):165-75, 1995. Review. [PubMed: 8563518]·    Valentine WN, Tanaka KR, Paglia DE. Hemolytic anemias and erythrocyte enzymopathies. Ann Intern Med. 103(2):245-57, 1985. [PubMed: 2990276]·    Travis SF. Red cell enzymopathies in the newborn. II. Inherited deficiencies of red cell enzymes. Ann Clin Lab Sci. 12(3):163-77, 1982. [PubMed: 6284015]