Category Archives: News

Nobel Prize in Physiology or Medicine- Oxygen takes the stage….might iron follow?

Sir Peter Ratcliffe (Oxford University) has recently been announced as this year’s winner of the Nobel Prize in Physiology or Medicine alongside William Kaelin, Jr (Harvard University) and Gregg Semenza (Johns Hopkins University). 

This prize was awarded for seminal work describing the mechanisms of oxygen sensing and control. The discovery centers on hypoxia-inducible factors (HIFs), a family of transcription factors that orchestrate cellular responses to hypoxia, thereby triggering metabolic, angiogenic and cell-cycle adaptations. In the wider physiological context, HIFs orchestrate erythropoietic and cardiopulmonary responses to hypoxia. 

Nobel Prize Medicine 2019

Under normoxic conditions, these HIF proteins are constantly produced then targeted for proteolytic degradation by the action of prolyl hydroxylases (PHDs).  These enzymes act as oxygen sensors owing to their requirement for oxygen as a substrate. Sir Ratcliffe’s laboratory helped uncover the role of these enzymes and identified the sites at which HIFs are hydroxylated (1 , 2).

Beyond enhancing our understanding of basic homeostatic control, these discoveries have also had far-reaching translational applications, most notably that of inhibiting PHDs for the treatment of anaemia.

The interplay between oxygen and iron homeostasis has long been recognised. Sir Ratcliffe himself once declared that “HIF may as well be called iron deficiency-inducible factor”. Indeed, the PHDs that regulate HIF stability require iron as a co-factor. This is reflected in the pathophysiological manifestations of iron deficiency, that often mimic the body’s response to hypoxia, e.g. pulmonary arterial hypertension. Another important aspect of this interplay is the control of renal HIF2 by Iron Regulatory Proteins (IRPs), a mechanism that is thought to couple erythropoiesis to iron availability. 

For those reasons, this Nobel prize is good news for those of us interested in iron. Over the coming years, we are likely to learn of further intersections between iron and oxygen homeostasis. The challenge will be to capitalise on these, so that iron-altering therapies could be harnessed to treat disorders of hypoxic signalling and vice versa. Another challenge for us in the iron community will be to raise the profile of iron research even further with a Nobel prize of our very own! 

We are extremely pleased to announce that Sir Ratcliffe will be the keynote speaker at the upcoming European Iron Club meeting in Oxford, 2-5 September 2020. (EIC2020)

Contributed by Prof Samira Lakhal-Littleton, Department of Physiology, Anatomy & Genetics
University of Oxford

Official nomenclature for HFE2 and HFE has been changed/updated

From: Dr Bryony Braschi []

Dear Researchers,

Many thanks for your feedback about our proposed nomenclature update for the gene currently approved as HFE2. All researchers were supportive of a symbol update to HJV.

Some researchers asked why we have added “BMP co-receptor” to the name.
This to maintain a link between this gene, which is aliased as RGMC, and its paralogs RGMA (repulsive guidance molecule BMP co-receptor a) and RGMB (repulsive guidance molecule BMP co-receptor b). It is a small amount of additional functional information that may be useful to researchers that are not associated with the field that visit our gene reports. It may be that most researchers in the field will choose to refer simply to HJV (hemojuvelin) in their publications.

Therefore the new nomenclature for this gene in human and its orthologs across vertebrates will be:

GENE NAME:   hemojuvelin BMP co-receptor
SYNONYMS:    HFE2, JH, HFE2A, RGMC, HJV, haemojuvelin

We hope you approve of this update and will use, or at least mention the new nomenclature in your future publications.

We would also like to propose a name only update for the gene currently approved as HFE (hemochromatosis). As you may know, the remit of the HGNC has expanded to naming the orthologs of human genes across vertebrates. Therefore, we are very keen to avoid the use of human phenotypes in gene nomenclature wherever possible as they may not be relevant across species. We will of course retain the well used HFE symbol for this gene (HGNC:4886) and the term “hemochromatosis” can of course still be used to refer to the phenotype and will remain in the gene record as a previous name, appearing on the gene symbol report on our site (

We therefore plan to make the following nomenclature update for this gene in human and its orthologs across vertebrates:

GENE NAME:   homeostatic regulator of iron

We intend to go ahead with this, but if you have any serious objections to this then let us know. Please note that if we do not hear from you within the next 14 days then we may assume you approve of this proposal and the nomenclature may be updated as above. Thank you.

Best wishes,

Bryony Braschi, PhD
Gene Nomenclature Advisor
HUGO Gene Nomenclature Committee (HGNC)
European Bioinformatics Institute (EMBL-EBI) European Molecular Biology Laboratory Wellcome Genome Campus Hinxton, Cambridgeshire
CB10 1SD, UK
phone: +44 (0)1223 494332
fax:   +44 (0)1223 494468

Haemochromatosis International publishes recommendations for the treatment of haemochromatosis

Haemochromatosis Association/Society/Patient group

Haemochromatosis International’s major project, to establish and publish a set of widely supported recommendations for the treatment of haemochromatosis is now complete. This is the result of many months of consultation and consensus with a wide range of the world’s haemochromatosis experts. We believe that this material will be useful for patients and health professionals.

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype” was published recently in the journal Hepatology International with free public access. The publication can be downloaded free.

Click here:

Paulo Santos


Haemochromatosis International

Web site