Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients

Background: Hereditary hemochromatosis is the most frequent cause of primary iron overload that is associated with HFE gene's mutation especially the C282Y mutation. The interaction between hemoglobin chain synthesis' disorders and the C282Y mutation may worsen the clinical picture of betathalassemia major [b-TM]

Aim: To establish the prevalence of the C282Y mutations in Egyptian b-TM patients and to address its adverse effects

Methods: Two-hundred and five b-TM patients were recruited and divided into two groups based on their serum ferritin [SF]; group I [N = 125] [SF 2500 ng/dl]. All patients were subjected to clinical and laboratory assessment with special emphasis on iron overload complications. Genotyping was assessed by polymerase chain reaction for detection of C282Y mutation in HFE gene

Results: The C282Y mutation was not detected in the studied b-TM neither in homozygous nor heterozygous state. There were several iron overload complications including cardiac complication [9.1%], liver disease [36.6%], delayed puberty [56.6%], primary [35.71%] and secondary amenorrhea [21.42%], short stature [27.3%], diabetes [3.4%], neutropenia [9.7%], arthralgia [10.2%], gastrointestinal [21.1%], depression [2.9%] and others [12.05%]. Group I showed a statistically significant lower rate of taking iron-rich diet when compared to group II. Group II showed significant longer mean duration of disease, higher total transfusion rate per life, lower mean HbF% level, higher mean HbA% level, and higher rate of elevated liver enzymes than patients with SF

Conclusion: The C282Y mutation was not detected in the studied cohort of Egyptian beta-TM patients neither in homozygous nor heterozygous state in spite of manifestations of iron overload complications

In utero exposure to cadmium pollution in Cairo and Giza governorates of Egypt

Serum cadmium levels at delivery were measured in a consecutive sample of 100 mother-infant pairs in Egypt using venous blood from mothers and umbilical cord blood from neonates. The serum cadmium levels of mothers ranged from 0.4 to 2.2 microg/L [mean 0.73 microg/L] and of infants from 0.2 to 1.5 microg/L [mean 0.66 microg/L]. Infant cadmium levels were about 70% of maternal levels in most pairs. Serum cadmium was significantly higher in mothers and babies passively exposed to tobacco smoke. Five-minute Apgar scores were negatively correlated with cord blood cadmium levels. The cadmium levels did not differ between subjects from Cairo and Giza or according to urban, suburban or rural areas. Thus, in utero exposure to cadmium was evident and wider-scale studies on its long-term effects are recommended

Effect of unilateral nephrectomy on the glomerular ultrastructure

The effects of unilateral nephrectomy on the contralateral kidney were studied ultrastructurally after 6 and 12 weeks of nephrectomy. Eighteen normal adult albino rats were used. They were divided into 3 groups, 6 in each. The first was control group, the animals sacrificed 6 weeks after nephrectomy were the second group and those sacrificed 12 weeks after nephrectomy were the third one. At 6 weeks after nephrectomy, the glomeruli showed vacuolated podocytes and focal thickening of glomerular capillaries basement membranes. At 12 weeks after nephrectomy, there were darkening of mesangial matrix. The podocytes showed fusion of their foot processes in some glomeruli and loss of these processes in others. Darkening of podoyte cytoplasm was also noticed. Electron dense deposits in the subendothelial space of glomerular capillaries were found. There were also darkening [sclerosing] and thickening of glomerular capillaries basement membranes in addition to the presence of electron lucent vacuoles in the capillaries of the operated animals. These findings suggested that the ultrastructure changes of glomeruli after unilateral nephrectomy were progressive and were to a great extent, contingent upon the development of podocytes defects that resulted from inordinate compensatory glomerular hypertrophy