Résumé
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
Résumé
To compare the efficacy of using rubber versus silicone tubes at the osteotomy of Dacryocystorhinostomy. 46 patients diagnosed with primary acquired nasolacrimal duct obstruction were assigned randomly to rubber, silicone or control group. The surgical procedures in the three groups were the same except that in patients of rubber and silicone groups, rubber or silicone tubes were placed at osteotomy opening and removed after 3 months. Transnasal endoscopic findings were recorded at the completion of surgery and at 3 months, 6 months and 9 monthes after surgery for the 3 groups. A computer aided digitizer was used to calculate the surface area of the osteotomy site. After removal of their tubes 3 patients in the rubber group had recurrent epiphora [78.0% success], one patient in silicone group [92.86% success] and 4 patients in control group [77.8% success]. The average final surface area of the osteotomy opening of patients with rubber group at the end of follow up was [9.85 mm2] in the silicone group was [17.47mm2] whereas in the control group was [8.56mm2]. Silicone tube more better than rubber one in maintaining effective larger osteotomy after Dacryocystorhinostomy. This can improve the long term success of the operation