Archive \ Volume.11 2020 Issue 3

Evaluation of Hemochromatosis, Diagnosis and Management: Simple Literature Review

Abdulmalek Adel Aboulkhair, Abdulrahman Ibn Almuataz Ezzi, Tariek Abdullah Alharbi, Ali Sultan Alzughbi, Khalid Melih Marick Alshammari, Sultan Musallam Alshammari, Mansour Thallab Albagami, Kawther Abdulla Alsadady, Thamer Hamad M Alshahrani, Fatheya Ahmed Hussain, Anwar M. Al Hadhari
Abstract

Background: Hemochromatosis is an autosomal recessive genetic disorder characterized by abnormal iron regulation in the body leading to excessive iron deposition in multiple organs. Most of the patients of hemochromatosis are presymptomatic or asymptomatic. Nevertheless, a minority of patients presents with severe complications. Objective: In this study, we aimed to discuss the published literature focused on diagnosing and managing hemochromatosis. Method: PubMed database was used for articles selection, and the following keys were used in the mesh ((“hemochromatosis”[Mesh]) and (“hemochromatosis management”[Mesh])). The articles' selection was based on the relevance to the topic as their primary endpoint. Conclusion: The stage of the disease and particularly the extent of iron overloading should be the parameters that are dependent on assessment and treatment. Phlebotomy is the mainstay of treatment in hemochromatosis cases. It improves insulin sensitivity, fatigue, and skin pigmentation. Initiating the phlebotomy before the development of liver cirrhosis has shown a significant decrease in morbidity and mortality rates. Iron chelation therapy can be an option when the hemoglobin of the patients cannot tolerate therapeutic phlebotomy.



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