Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in [3-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers [24.4%]. The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFE gene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls

Homocystein level n patients with breast cancer; post therapeutic effect on its level

Hyperhomocysteinemia has become established as one of the most common conditions linked to vascular events including both venous and arterial thrombosis. More recently, there has been interest in the potential links between total homocysteine [Hcy] and cancer. The aim of the present study was to evaluate the level owf homocysteine in patients with breast cancer and to evaluate the effect of treatment on its level being linked to the development of vascular events including thrombosis. The study was done on 20 patients suffered from breast cancer. Control group included 10 healthy female subjects who were age matched with the studied patients. The entire participants were subjected to full clinical examination. Assessment of homocysteine level, CBC, ESR, coagulation profile, lipid profile, liver function test and kidney function test were done for all participants. After breast cancer patients had undergo modified radical mastectomy and finished 6 cycles of chemotherapy [FAC] protocol; [5-Flurouracil+Cyclophosphamide+Adriamycin] serum Hey, were measurcd again. Despite the trend towards higher Hcy levels in patients with breast cancer before treatment and after chemotherapy when compared with the normal controls, such difference was statistically not significant [p alue=0.19 and 0.66, respectively]. However, plasma Hey concentrations after chemotherapy showed significant decrease compared to their levels before starting treatment [p value=0.002]. Plasma Hey levels may be a risk factor for breast cancer. Future studies are needed to prove causality and provide insight on the mechanism of action of Hey in breast tumorigenesis. The significant decrease in plasma Hey concentrations after tumor resection and chemotherapy would require a large randomized trial for confirmation and to address the factors that would help for prevention of vascular complications including venous thrombosis in patients with cancer