HFE does not seem to be present. Type 3 hemochromatosis (TFR2) case have been reported. Ferroportin disease have been reported worldwide and should be considered.
Studies did not found any C282Y HFE mutation: Dis Markers. 2009;27(1):17-22, Int J Clin Exp Med. 2011;4(3):200-4. Ann Genet. 2004 Oct-Dec;47(4):325-30.
In our experience of patients with TFR2 related Hemochromatosis 2 patient were from north africa (Br J Haematol. 2013 Jul;162(2):278-81).
Regarding ferroportin disease, many case report from various ethnic population have been reported, thus it must be considered.
Best regards
Thank you very much had 8 members arabic family till now 4 of them had high Hb C282Y – not detected and H63D homozygous were detected T2 * MRI showed severe iron overload in the liver
The other 4 hetrozygous normal Hb and ferritin yet T2* MRI showed mild to moderate iron overload what do think
No other cofactors of iron overload ? What level (quantification µmol/g ?) of iron overload at MRI ? Age of those patient ? level of serum ferritin and transferrin saturation ?
No other cofactors
T2* IS QUANTITATIVE method and severe is defined as >15 mg/g
Serum ferritin and transferrin saturation ? Does MRI show spleen Iron overload ?
Tese are the values for one patients with very sever iron over load in the liver
iron 21 micromol/l (8.1-21.6)
TIBC 96 micromol/l (45-80)
%iron saturations 21.9(15-45)
ferritin 185miro gram/l (24-336)
MRI the T2measures heart and liver
Well those result are quite surprising, no biochemical sign of iron overload. Blood count, Hemoglobin, red cell volume are all normal ? Can't figure any case of iron overload with such normal biochemical parameter. Something is probably wrong with the MRI.
No t2*mri is accurate and we got lessons from diseses like thalassemia intermedia that ferritin doesnot correlates with mri and its not one patients its collection in my clinic all of them with mri (abnormal)
I agree with Edouard Bardou-Jacquet that the laboratory results are surprising if you believe this individual has hemochromatosis. What measures did you use to make the diagnosis? With what appear to be normal ferritin levels, and transferrin saturation values this patient might not fit the clinical criteria. Even with the genetic mutations many, probably most, people do not have significant symptoms for HC. It would be interesting to see more information on your case series. This is a very interesting discussion. Salut
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