RESUMO
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