The development of polycythemia vera after phlebotomy treatment for hereditary haemochromatosis

INTRODUCTION Hereditary haemochromatosis (HH) is an autosomal recessive disorder, related to mutations in the HFE gene, characterized by increased intestinal iron absorption through decreased hepcidin levels. [...]Andrikovics et al found decreased allele frequencies of genetic HFE and TFR variants w...

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Published inEJHaem Vol. 2; no. 3; pp. 537 - 538
Main Authors Bommel, Erik JM, Kelder, Denise, Hoeks, Marlijn PA, Herbers, Alexandra HE
Format Journal Article
LanguageEnglish
Published United States John Wiley & Sons, Inc 01.08.2021
John Wiley and Sons Inc
Wiley
Subjects
Blood & organ donations
Blood donors
Case Report
Case Reports
Gene frequency
Hemoglobin
Hepcidin
Hereditary diseases
HFE protein
Iron
Kinases
Mutation
Patients
Phlebotomy
Polycythemia
Polycythemia vera
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Summary:INTRODUCTION Hereditary haemochromatosis (HH) is an autosomal recessive disorder, related to mutations in the HFE gene, characterized by increased intestinal iron absorption through decreased hepcidin levels. [...]Andrikovics et al found decreased allele frequencies of genetic HFE and TFR variants with a casual role in iron overload in MPN patients, including 175 PV patients, compared with healthy blood donors [ 7], indicating a protective role for iron overload against MPN. [...]HH-related iron overload seems to be an important disease modifier of PV.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Report-1
ISSN:2688-6146
2688-6146
DOI:10.1002/jha2.222