Erythropoietic protoporphyria and iron therapy

McClements, Brian M.; Bingham, A.; Callender, M. E.; Trimble, Elisabeth R.

doi:10.1111/j.1365-2133.1990.tb08293.x

Cited by 26 publications

(17 citation statements)

References 2 publications

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“…Moreover, if iron supplementation is beneficial in EPP, an iron deficit can be assumed. In the medical literature there are conflicting case reports on the effect of iron supplementation on EPP symptoms [4,18,27,31]. In our clinical experience, iron supplementation has consistently exacerbated EPP phototoxic symptoms, although it may improve the general well-being of the patients, increase their hemoglobin concentrations and thus ameliorate their anemia.…”

Section: Discussionmentioning

confidence: 74%

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability

Barman‐Aksözen

Minder

Schubiger

et al. 2015

Blood Cells, Molecules, and Diseases

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Section: Discussionmentioning

confidence: 74%

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability

Barman‐Aksözen

Minder

Schubiger

et al. 2015

Blood Cells, Molecules, and Diseases

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“…24 Finally, measurement of sTfR, in addition to sFn, may help to distinguish those patients in whom the anemia of EPP is exacerbated by iron loss and who might benefit from iron replacement. 25 …”

Section: Iron Statusmentioning

confidence: 99%

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

Holme¹,

Worwood²,

Anstey³

et al. 2007

Blood

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“…35,36 Interestingly, in some EPP patients, the disease is exacerbated by oral iron therapy. [37][38][39] In EPP, the erythroid program functions normally except that diminished levels of ferrochelatase result in less than stoichiometric conversion of protoporphyrin to heme. Because anemia is generally not a feature of EPP, it is clear that sufficient levels of heme are eventually synthesized.…”

Section: Org Frommentioning

confidence: 99%

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases

Najahi‐Missaoui

Dailey

2005

Blood

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Mutations resulting in diminished activity of the dimeric enzyme ferrochelatase are a prerequisite for the inherited disorder erythropoietic protoporphyria (EPP). Patients with clinical EPP have only 10% to 30% of normal levels of ferrochelatase activity, and although many patients with EPP have one mutant allele and one "low-expression" normal allele, the possibility remains that, for some, low ferrochelatase activity may result from an EPP mutation that has an impact on both subunits of the wild-type/mutant heterodimer. Here we present data for 12 ferrochelatase wild-type/EPP mutant heterodimers showing that some mutations result in heterodimers with the residual activity anticipated from individual constituents, whereas others result in heterodimers with significantly lower activity than would be predicted. Although the data do not allow an a priori prediction of heterodimeric residual activity based solely on the in vitro activity of EPP homodimers or the position of the mutated residue within ferrochelatase, mutations that affect the dimer interface or [2Fe-2S] cluster have a significantly greater impact on residual activity than would be predicted. These data suggest that some EPP mutations may result in clinically overt EPP in the absence of a low-expression, wild-type allele; this is of potential significance for genetic counseling of patients with EPP. (Blood. 2005;106:1098-1104)

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Erythropoietic protoporphyria and iron therapy

Cited by 26 publications

References 2 publications

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases

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