Chronic severe hemolytic anemia due to G-6-PD Charleston: A new deficient variant

Beutler, Ernest; Grooms, Ann M.; Morgan, Samuel K.; Trinidad, F.

doi:10.1016/s0022-3476(72)80014-3

Cited by 19 publications

(5 citation statements)

References 7 publications

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“…Information on the neonatal course is scanty (17.19). However, in many cases Exchange Transfusion (ET) was required in the first few days of life t o control hyperbilirubinemia and avoid Kernicterus (20)(21)(22)(23)(24). In CNSHA associated with G6PD def, as well as in other RBC enzymopathies, marked hyperbilirubinemia is restricted t o the neonatal period although marked hemolysis persists throughout life (25)(26)(27).…”

mentioning

confidence: 99%

Severe neonatal jaundice associated with glucose‐6‐phosphate dehydrogenase deficiency: pathogenesis and global epidemiology

Valaes

1994

Acta Paediatrica

111

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The association of glucose‐6‐phosphate dehydrogenase deficiency (G6PD def) with severe neonatal jaundice (NJ) and Kernicterus was described just over 30 years ago in reports from Sardinia (1–4) Singapore (5,6) and Greece (7,8). In this review we will examine the progress made since that time in our understanding of the pathophysiology of severe NJ associated with G6PD def, its global epidemiology, and its role in the balanced polymorphism of the G6PD def gene (Gd). Including this review in the Festschrift to Spyros Doxiadis should highlight his contribution to the field. In Greece the search for a new cause of severe NJ and Kernicterus was triggered by his realization that the recognized at the time, causes of severe NJ were absent in a large proportion of the neonates treated at the “Alexandra” Maternity Hospital in Athens (9).

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mentioning

confidence: 99%

Severe neonatal jaundice associated with glucose‐6‐phosphate dehydrogenase deficiency: pathogenesis and global epidemiology

Valaes

1994

Acta Paediatrica

111

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“…Among them, the Beaujon [4] and Ohio [13] types differ from G6PD Baudelocque on the basis of the Km for glucose-6-phosphate; the Torrance variant [15] is less anodic upon electrophoresis. The Charleston variant shares most of the features found in our variant but was described in an American Negro [3]. However, the possibility that the two variants are actually identical cannot be excluded.…”

Section: Discussionmentioning

confidence: 63%

G6PD Baudelocque: A New Unstable Variant Characterized in Cultured Fibroblasts

Junien¹,

Jc²,

Mc³

et al. 1974

Enzyme

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A new deficient variant of glucose-6-phosphate dehydrogenase, G6PD Baudelocque, giving rise to severe congenital non-spherocytic hemolytic disease is described. It is characterized by fast electrophoretic mobility, extreme in vitro and in vivo lability, normal K(m) for G6P, normal utilization of analogues, and normal pH curve. Because of transfusions, most of the investigations were carried out in cultured fibroblasts derived from a skin biopsy.

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“…A retrospective analysis of this aspect provides contradictory results. A possible explanation is that the erythrocytes carrying the mutant enzyme are rapidly eliminated from the bloodstream (Beutler et al 1972). Others have reported a few cases with the expected intermediate values (Mentzer et al 1980;Vives Cottons et al 1982;Ravindranath and Beutler 1987).…”

Section: Discussionmentioning

confidence: 98%

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

et al. 1990

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A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.

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Chronic severe hemolytic anemia due to G-6-PD Charleston: A new deficient variant

Cited by 19 publications

References 7 publications

Severe neonatal jaundice associated with glucose‐6‐phosphate dehydrogenase deficiency: pathogenesis and global epidemiology

Severe neonatal jaundice associated with glucose‐6‐phosphate dehydrogenase deficiency: pathogenesis and global epidemiology

G6PD Baudelocque: A New Unstable Variant Characterized in Cultured Fibroblasts

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova)

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