Red Cell Enzymes Glucose-6-Phosphate Dehydrogenase Deficiency*

Genetic System ◽

Red Cell ◽

Gene Frequencies ◽

Red Cell Enzymes ◽

Blood Specimens ◽

Blood specimens were collected from 184 Kurds living in those parts of northwest Iran from which many of the Kurdish Jews, tested in Israel, or their parents, came. Tests were done for the antigens of 10 blood group systems, for the genetic variants of six systems of plasma proteins, and of nine systems of red cell enzymes, and for abnormal haemoglobins. The gene frequencies calculated from the results do not differ greatly from those found in neighbouring populations. They also show a general resemblance to those of the Kurdish Jews, except that the latter have a very much higher incidence of glucose 6-phosphate dehydrogenase deficiency. The possible reasons for this marked difference affecting one genetic system only, are discussed.

Glucose-6-Phosphate Dehydrogenase Deficiency and Other Inherited Red Cell Defects

Genetic Disorders of the Indian Subcontinent ◽

10.1007/978-1-4020-2231-9_15 ◽

2004 ◽

pp. 275-290

Author(s):

Roderick Hinchliffe ◽

Ajay Vora

Keyword(s):

Red Cell ◽

Detection of Red Cell Glucose-6-Phosphate Dehydrogenase Deficiency

Proceedings of the Association of Clinical Biochemists ◽

10.1177/036985646200200218 ◽

1962 ◽

Vol 2 (2) ◽

pp. 46-46

Author(s):

C. S. Pitcher

Keyword(s):

Red Cell ◽

Cell Glucose

Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia

British Journal of Haematology ◽

10.1111/j.1365-2141.1994.tb04885.x ◽

1994 ◽

Vol 87 (1) ◽

pp. 148-152 ◽

Cited By ~ 10

Author(s):

F. Alfinito ◽

V. Calabro ◽

M. D. Cappellini ◽

G. Fiorelli ◽

S. Filosa ◽

...

Keyword(s):

Cell Membrane ◽

Haemolytic Anaemia ◽

Synergistic Interaction ◽

Red Cell ◽

Red Cell Membrane ◽

Membrane Defects ◽

Red Cell Enzymes

Hematology ◽

10.1182/asheducation-2005.1.19 ◽

2005 ◽

Vol 2005 (1) ◽

pp. 19-23 ◽

Cited By ~ 35

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 ◽

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.

Red cell glucose-6-phosphate dehydrogenase deficiency as a cause of hyperbilirubinemia in the premature infant

The Journal of Pediatrics ◽

10.1016/s0022-3476(66)80500-0 ◽

1966 ◽

Vol 69 (5) ◽

pp. 903-905 ◽

Cited By ~ 2

Author(s):

Frank A. Oski ◽

Eshagh Eshaghpour ◽

Margaret L. Williams

Keyword(s):

Premature Infant ◽

Red Cell ◽

Cell Glucose

Red cell NADP+ and NADPH in glucose-6-phosphate dehydrogenase deficiency.

Journal of Clinical Investigation ◽

10.1172/jci107998 ◽

1975 ◽

Vol 55 (4) ◽

pp. 875-878 ◽

Cited By ~ 43

Author(s):

H N Kirkman ◽

G D Gaetani ◽

E H Clemons ◽

C Mareni

Keyword(s):

Red Cell ◽

Hereditary Hemolytic Disease Secondary to Glucose-6-Phosphate Dehydrogenase Deficiency: Report of Three Cases with Special Emphasis on ATP Metabolism

Blood ◽

10.1182/blood.v23.4.427.427 ◽

1964 ◽

Vol 23 (4) ◽

pp. 427-444 ◽

Cited By ~ 15

Author(s):

DANIEL N. MOHLER ◽

CHARLES L. CROCKETT

Keyword(s):

Cell Survival ◽

Red Cell ◽

Hemolytic Disease ◽

The Third ◽

Turkish Origin ◽

Atp Metabolism ◽

Red Cell Survival ◽

Mode Of Inheritance

Abstract 1. Three cases of hereditary hemolytic disease secondary to G-6-PD deficiency are described. Two of the cases were first cousins of Scotch-Irish-English descent and the mode of inheritance was believed to be sex-linked. The third case was of Turkish origin; no family studies were availale. 2. The mothers, who were heterozygous for G-6-PD deficiency, showed only minimal expression of the defect, which was manifested by a slightly decreased red cell survival in both mothers and an abnormal methemoglobin reduction test in one of them. 3. All three cases showed a more pronounced fall in erythrocyte ATP after incubation with phenylhydrazine than that observed in primaquine-sensitive Negroes whose red cells were less deficient in G-6-PD. 4. It is suggested that the inability of the G-6-PD-deficient erythrocyte to maintain adequate levels of ATP may be an important factor in the pathogenesis of the hemolytic process.

Red Blood Cell Hexokinase in Tumor Bearing Mice

Tumori Journal ◽

10.1177/030089168306900305 ◽

1983 ◽

Vol 69 (3) ◽

pp. 201-204 ◽

Cited By ~ 1

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 ◽

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.