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Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.
Int J Lab Hematol. 2014 Jun; 36(3):388-97.IJ

Abstract

Hereditary red blood cell enzymopathies are genetic disorders affecting genes encoding red blood cell enzymes. They cause a specific type of anemia designated hereditary nonspherocytic hemolytic anemia (HNSHA). Enzymopathies affect cellular metabolism, which, in the red cell, mainly consists of anaerobic glycolysis, the hexose monophosphate shunt, glutathione metabolism, and nucleotide metabolism. Enzymopathies are commonly associated with normocytic normochromic hemolytic anemia. In contrast to other hereditary red cell disorders such as membrane disorders or hemoglobinopathies, the morphology of the red blood cell shows no specific abnormalities. Diagnosis is based on detection of reduced specific enzyme activity and molecular characterization of the defect on the DNA level. The most common enzyme disorders are deficiencies of glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PK). However, there are a number of other enzyme disorders, often much less known, causing HNSHA. These disorders are rare and often underdiagnosed, and the purpose of this review. In this brief review, we provide an overview of clinically relevant enzymes, their function in red cell metabolism, and key aspects of laboratory diagnosis.

Authors+Show Affiliations

Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24750686

Citation

Koralkova, P, et al. "Rare Hereditary Red Blood Cell Enzymopathies Associated With Hemolytic Anemia - Pathophysiology, Clinical Aspects, and Laboratory Diagnosis." International Journal of Laboratory Hematology, vol. 36, no. 3, 2014, pp. 388-97.
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. 2014;36(3):388-97.
Koralkova, P., van Solinge, W. W., & van Wijk, R. (2014). Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. International Journal of Laboratory Hematology, 36(3), 388-97. https://doi.org/10.1111/ijlh.12223
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. 2014;36(3):388-97. PubMed PMID: 24750686.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis. AU - Koralkova,P, AU - van Solinge,W W, AU - van Wijk,R, PY - 2014/01/24/received PY - 2014/02/28/accepted PY - 2014/4/23/entrez PY - 2014/4/23/pubmed PY - 2014/12/15/medline KW - Anemia KW - RBC KW - RBC enzymes KW - RBC metabolism KW - laboratory practice SP - 388 EP - 97 JF - International journal of laboratory hematology JO - Int J Lab Hematol VL - 36 IS - 3 N2 - Hereditary red blood cell enzymopathies are genetic disorders affecting genes encoding red blood cell enzymes. They cause a specific type of anemia designated hereditary nonspherocytic hemolytic anemia (HNSHA). Enzymopathies affect cellular metabolism, which, in the red cell, mainly consists of anaerobic glycolysis, the hexose monophosphate shunt, glutathione metabolism, and nucleotide metabolism. Enzymopathies are commonly associated with normocytic normochromic hemolytic anemia. In contrast to other hereditary red cell disorders such as membrane disorders or hemoglobinopathies, the morphology of the red blood cell shows no specific abnormalities. Diagnosis is based on detection of reduced specific enzyme activity and molecular characterization of the defect on the DNA level. The most common enzyme disorders are deficiencies of glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PK). However, there are a number of other enzyme disorders, often much less known, causing HNSHA. These disorders are rare and often underdiagnosed, and the purpose of this review. In this brief review, we provide an overview of clinically relevant enzymes, their function in red cell metabolism, and key aspects of laboratory diagnosis. SN - 1751-553X UR - https://www.unboundmedicine.com/medline/citation/24750686/Rare_hereditary_red_blood_cell_enzymopathies_associated_with_hemolytic_anemia___pathophysiology_clinical_aspects_and_laboratory_diagnosis_ L2 - https://doi.org/10.1111/ijlh.12223 DB - PRIME DP - Unbound Medicine ER -