Vinsamlegast notið þetta auðkenni þegar þið vitnið til verksins eða tengið í það: http://hdl.handle.net/1946/38544
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that causes iron overload as a result of unregulated intestinal iron absorption. Platelets are small anucleate fragments of blood cells important in hemostasis and inflammation.
The aim of this project was to describe the impact of HH on the expression of iron regulatory proteins HFE, transferrin receptor 1 (TfR1) and transferrin receptor 2 (TfR2) in platelets.
Mononuclear cells (MNCs) and platelets (PLTs) were isolated from whole blood of ten healthy controls and ten HH patients. Expression of HFE, TfR1 and TfR2 was analyzed both on RNA and protein level. mRNA expression was analyzed using RT-qPCR method and protein expression was analyzed using Western blot method.
The results showed that gene expression of HFE, transferrin receptor 1 (TfRC) and transferrin receptor 2 (TfR2) on mRNA level is present in MNCs and platelets although in small amount. There was no significant difference in gene expression between the two groups. Expression of HFE and TfR2 proteins analyzed with Western blot was not detected in either MNCs or platelets but TfR1 protein expression was detected in platelets from both groups. No significant difference was observed in protein expression of TfR1 in platelets from the two groups.
These results suggest that HH probably does not have an impact on the expression of HFE, TfRC and TfR2 on RNA level in platelets and MNCs. The results for the protein expression of the iron regulatory proteins were inconclusive for both groups in this study.
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