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 beta-thalassemia major (β-TM). Aim: To establish the prevalence of the C282Y mutations in Egyptian β-TM patients and to address its adverse effects. Methods: Two-hundred and five β-TM patients were recruited and divided into two groups based on their serum ferritin (SF); group I (N = 125) (SF ≤ 2500 ng/dl) and group II (N = 80) (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 β-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 ≤ 2500 ng/dl. Conclusion: The C282Y mutation was not detected in the studied cohort of Egyptian β-TM patients neither in homozygous nor heterozygous state in spite of manifestations of iron overload complications. Keywords: Beta-thalassemia major, Hereditary hemochromatosis, The C282Y mutation, Iron overload complications, Egyptia

The functional intraoral Glasgow scale in floor of mouth carcinoma: longitudinal assessment of 62 consecutive patients

The functional integrity of the floor of the mouth (FOM) is essential in maintaining tongue mobility, deglutition, and control and disposal of saliva. The present study focused on reporting oral function using functional intraoral Glasgow scale (FIGS) in patients who had surgical ablation and reconstruction of FOM carcinoma with or without chemo-radiotherapy. The study included patients who had surgical treatment of floor of mouth cancer in two regional head and neck units in Glasgow, UK between January 2006 and August 2007. Patients were assessed using FIGS before surgery, 2 months, 6 months and 1 year after surgery. It is a five-point scale self-questionnaire to allow patients to self-assess speech, chewing and swallowing. The maximum total score is 15 points. The influence of socio-demographic parameters, tumour characteristics and surgical parameters was addressed in the study. A total of 62 consecutive patients were included in the study; 41 (66.1 %) were males and 21 (33.9 %) were females. The patients’ mean age at the time of diagnosis was 60.6 years. Fifty (80.6 %) patients had unilateral origin of FOM tumours and 10 (19.4 %) had bilateral origin. Peroral approach was the most common approach used in 35 (56.4 %) patients. The mean preoperative FIGS score was 14. Two months after surgery, it droped to 9.4 then started to increase gradually thereafter and recorded 10.1 at 6 months and 11 at 1 year. Unilateral FOM resection recorded better score than bilateral and lateral FOM tumours than anterior at 1 year postoperatively. Furthermore, direct closure showed better functional outcome than loco-regional and free flaps. The FIGS is a simple and comprehensive way of assessing a patient’s functional impairment following surgery in the FOM. Tumour site and size, surgical access, surgical resection and method of reconstruction showed significant influence on oral function following surgical resection. A well-designed rehabilitation programme is required to improve oral function after surgical resection of oral cancer