RGD Reference Report - High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. - Rat Genome Database

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High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients.

Authors: Varkonyi, J  Tarkovacs, G  Karadi, I  Andrikovics, H  Varga, F  Varga, F  Demeter, J  Tordai, A 
Citation: Varkonyi J, etal., Acta Haematol. 2003;109(2):64-7.
RGD ID: 10755559
Pubmed: PMID:12624489   (View Abstract at PubMed)
DOI: DOI:68487   (Journal Full-text)

Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote. The difference between the HFE-positive and HFE-negative MDS patients as regards initial serum iron and transferrin saturation was not significant. Inevitably the iron overload syndrome eventually develops in MDS patients due to intrinsic characteristics of the disease as well as an escalating need for blood transfusion therapy in the course of the disease. The high incidence rate of HFE gene mutations among MDS patients may also contribute to this vicious circle.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HFEHumanmyelodysplastic syndrome  IAGP DNA:missense mutations:cds:p.H63D and p.C282Y (human)RGD 
HfeRatmyelodysplastic syndrome  ISOHFE (Homo sapiens)DNA:missense mutations:cds:p.H63D and p.C282Y (human)RGD 
HfeMousemyelodysplastic syndrome  ISOHFE (Homo sapiens)DNA:missense mutations:cds:p.H63D and p.C282Y (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HFEHumanMyelodysplasia  IAGP DNA:missense mutations:cds:p.H63D and p.C282YRGD 
HFEHumanRefractory anemia  IAGP DNA:missense mutations:cds:p.H63D and p.C282Y (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Hfe  (homeostatic iron regulator)

Genes (Mus musculus)
Hfe  (homeostatic iron regulator)

Genes (Homo sapiens)
HFE  (homeostatic iron regulator)


Additional Information