Red Cell Enzymes

Hematology ◽  
2005 ◽  
Vol 2005 (1) ◽  
pp. 19-23 ◽  
Author(s):  
Josef T. Prchal ◽  
Xylina T. Gregg
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Cytochrome B5 ◽  
Screening Tests ◽  
Red Cell ◽  
Developmental Abnormalities ◽  
Enzymatic Function ◽  
Cell Enzyme ◽  
Red Cell Enzymes ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Mutations leading to red cell enzyme deficiencies can be associated with diverse phenotypes that range from hemolytic anemia, methemoglobinemia, polycythemia, and neurological and developmental abnormalities. While most of these mutations occur sporadically, some such as common glucose-6-phosphate dehydrogenase (G6PD) mutants are endemic and rarely cause disease. Common G6PD mutants likely reached their prevalence because they provide some protection against severe malarial complications. In this review G6PD, pyruvate kinase, 5′ nucleotidase, and cytochrome b5 reductase deficiencies will be discussed in greater detail. Limitations of commonly used screening tests for detection of these disorders will also be emphasized, as well as emerging knowledge about non-enzymatic function of the glycolytic enzymes.

Erythrocyte enzymopathies

2020 ◽  
pp. 5463-5472
Author(s):  
Alberto Zanella ◽  
Paola Bianchi
Keyword(s):  
Triosephosphate Isomerase ◽  
Diagnostic Value ◽  
Nucleotide Metabolism ◽  
Clinical Consequence ◽  
Red Cell ◽  
Environmental Lead ◽  
Cell Enzyme ◽  
Metal Poisoning ◽  
Enzyme Defects ◽  
Glucose 6 Phosphate Dehydrogenase

Numerous enzymes, including those of the hexose monophosphate and glycolytic pathways, are active in the red cell. They are required for the generation of ATP and the reductants NADH and NADPH. 2,3-Diphosphoglycerate, an intermediate of glucose metabolism, is a key regulator of the affinity of haemoglobin for oxygen, and accessory enzymes are also active for the synthesis of glutathione, disposal of oxygen free radicals, and for nucleotide metabolism. With the exception of heavy metal poisoning and rare cases of myelodysplasia, most red cell enzyme deficiency disorders are inherited. They may cause haematological abnormalities, (most commonly nonspherocytic haemolytic anaemias, but also rarely polycythaemia or methaemoglobinaemia, manifest with autosomal recessive or sex-linked inheritance), and may also be associated with nonhaematological disease when the defective enzyme is expressed throughout the body. Some may mirror important metabolic disorders, without producing haematological problems, making them of diagnostic value. Others are of no known clinical consequence. With rare exceptions, it is impossible to differentiate the enzymatic defects from one another by clinical or routine laboratory methods. Diagnosis depends on the combination of (1) accurate ascertainment of the family history; (2) morphological observations—these can determine whether haemolysis is present, rule out some causes of haemolysis (e.g. hereditary spherocytosis and other red blood cell membrane disorders), and diagnose pyrimidine 5′-nucleotidase deficiency (prominent red cell stippling); (3) estimation of red cell enzyme activity; and (4) molecular analysis. The most common red cell enzyme defects are glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, glucose-6-phosphate isomerase deficiency, pyrimidine 5′-nucleotidase deficiency—which may also induced by exposure to environmental lead—and triosephosphate isomerase deficiency.

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

Blood ◽  
2000 ◽  
Vol 95 (11) ◽  
pp. 3585-3588 ◽  
Author(s):  
Ernest Beutler ◽  
Terri Gelbart
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Relative Frequency ◽  
Gene Frequency ◽  
Red Cell ◽  
White Population ◽  
Pyruvate Kinase Deficiency ◽  
Oligonucleotide Hybridization ◽  
Allele Specific ◽  
White Patients

Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. The prevalence of this deficiency is unknown, though some estimates have been made based on the frequency of low red cell PK activity in the population. An additional 20 patients with hereditary nonspherocytic hemolytic anemia caused by PK deficiency have been genotyped. One previously unreported mutation 1153C→T (R385W) was encountered. The relative frequency of PK mutations in patients with hemolytic anemia caused by PK deficiency was calculated from the 18 white patients reported here and from 102 patients previously reported in the literature. DNA samples from 3785 subjects from different ethnic groups have been screened for the 4 more frequently encountered mutations—c.1456 C→T(1456T), c.1468 C→T(1468T), c.1484 C→T(1484T), and c.1529 G6A (1529A)—by allele-specific oligonucleotide hybridization. Among white patients the frequency of the 1456T mutation was 3.50 × 10−3; that of the 1529A mutation was 2.03 × 10−3. Among African Americans the frequency of the 1456T mutation was 3.90 × 10−3 The only mutation found in the limited number of Asians tested was 1468T at a frequency of 7.94 × 10−3. Based on the gene frequency of the 1529A mutation in the white population and on its relative abundance in patients with hemolytic anemia caused by PK deficiency, the prevalence of PK deficiency is estimated at 51 cases per million white population. This number would be increased by inbreeding and decreased by failure of patients with PK deficiency to survive.

scholarly journals Pyruvate kinase deficiency: epidemiology, molecular analyses and modern diagnostic approaches (literature review)

2020 ◽  
Vol 7 (2) ◽  
pp. 86-93
Author(s):  
A. V. Bankole ◽  
E. A. Chernyak
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Diagnostic Methods ◽  
Compound Heterozygous ◽  
Red Cell ◽  
Molecular Genetic Study ◽  
Pyruvate Kinase Deficiency ◽  
Diagnostic Approaches

Red cell pyruvate kinase deficiency is the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Pyruvate kinase is the enzyme involved in the last step of glycolysis – the transfer of a phosphate group from phosphoenolpyruvate producing the enolate of pyruvate and ATP (50 % of total energy ATP of erythrocytes). ATP deficiency directly shortened red cell lifespan. Affected red blood cells are destroyed in the splenic capillaries, leading to the development of chronic hemolytic anemia. It is an autosomal recessive disease, caused by homozygous and compound heterozygous mutations in the PKLR gene. There are no exact data on the incidence of pyruvate kinase deficiency, but the estimated frequency varies from 3: 1,000,000 to 1:20,000. The clinical features of the disease and the severity are highly variable. Diagnosis of pyruvate kinase deficiency is based on the determination of pyruvate kinase activity and molecular genetic study of the PKLR gene. The variety of clinical manifestations, possible complications, as well as the inaccessibility of diagnostic methods complicate the diagnosis.

Red-Cell Enzyme Activities and Properties of Mutant Pyruvate Kinase after 1-Year Storage in a -80°C Freezer

Vox Sanguinis ◽  
1981 ◽  
Vol 40 (2) ◽  
pp. 85-90
Author(s):  
Yoji Ishida ◽  
Shiro Miwa ◽  
Susumu Takegawa ◽  
Noboru Fujinami ◽  
Kunio Yamato
Keyword(s):  
Pyruvate Kinase ◽  
Enzyme Activities ◽  
Red Cell ◽  
Cell Enzyme

Red Blood Cell Hexokinase in Tumor Bearing Mice

1983 ◽  
Vol 69 (3) ◽  
pp. 201-204 ◽  
Author(s):  
Mauro Magnani ◽  
Sabina Bonfigli ◽  
Franco Canestrari ◽  
Vilberto Stocchi ◽  
Marina Dachà ◽  
...  
Keyword(s):  
Blood Cell ◽  
Red Blood Cell ◽  
Red Cell ◽  
Normal Range ◽  
Tumor Bearing ◽  
Cell Age ◽  
Red Cell Enzymes ◽  
Isozymic Pattern ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Normal Controls

Red blood cell hexokinase of tumor-bearing BALB/c mice was found to be 35% higher than in the normal controls, whereas glucose 6-phosphate-dehydrogenase and other red blood cell glycolytic enzymes were in the normal range. This hexokinase increase cannot be explained by a mean younger red cell population because normal hematological data and normal red cell enzymes, known as red cell age-markers, have been found in tumor-bearing mice. The isozymic pattern of red cell hexokinase is not modified in the tumor-bearing mice.

scholarly journals Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population

2000 ◽  
Vol 5 (2) ◽  
pp. 119-123 ◽  
Author(s):  
Jurgen May ◽  
Christian G. Meyer ◽  
Lars Grossterlinden ◽  
Olusegun G. Ademowo ◽  
Frank P. Mockenhaupt ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Kinase Activity ◽  
Red Cell ◽  
Pyruvate Kinase Activity ◽  
Nigerian Population ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Cell Glucose

Relationship Between Erythrocyte Glucose-6-Phosphate Dehydrogenase and the Hemolytic Anemia of Infection

PEDIATRICS ◽  
1966 ◽  
Vol 38 (2) ◽  
pp. 291-293
Author(s):  
SENIH FIKRIG ◽  
THERESA CHUN ◽  
JANET WATSON
Keyword(s):  
Hemolytic Anemia ◽  
Enzyme Deficiency ◽  
Red Cell ◽  
Severe Infections ◽  
Glucose 6 Phosphate Dehydrogenase

A correlation between hemolytic anemia due to infection and red-cell G-6-PD enzyme deficiency was investigated in 36 patients with severe infections (mainly meningitis). No such correlation was demonstrated in this particular group.

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