Concise Summary: Hemochromatosis Along with Its Cure
Abstract
A condition known as hemochromatosis results in excessive iron deposition, which damages several organs. Hemochromatosis affects the liver, pancreas, heart, thyroid, joints, skin, gonads, and pituitary among other organs.Famous diagnostician and teacher Dr. Armand Trosseau published the first medical description of a patient with hemochromatosis in a French pathology paper in 1865.Hemochromatosis is a well-defined illness that can be brought on by mutations in any gene that restricts iron entry into the blood. It is typified by normal iron-driven erythropoiesis and hazardous iron accumulation in parenchymal cells of essential organs. When Feder et al. found in 1996 that a mutation in HFE caused hereditary hemochromatosis, it was a significant discovery for the field of hemochromatosis research.Systemic iron excess of hereditary origin resulting from a hepcidin deficiency, including reduced hepcidin-ferroportin binding activity or production, is known as hemochromatosis. A correct diagnosis of this illness is frequently challenging due to the wide range, lack of specificity, and vagueness of its signs and symptoms. The early warning signs and symptoms include arthralgia, weakness, weight loss, and stomach pain.In this review study, we discuss the pathophysiology, epidemiology, symptoms, and aetiology of hemochromatosis.
Keywords:
Hemochromatosis, Epidemiology, Symptoms, Pathophysiology, Medication
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References
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16. Tembo R. Discussing Why Hemochromatosis is Ignored (A Common but Rarely Diagnosed Disease). Intern Med Res - Open J. 2016;1(1):1–5.
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24. Eschwege E, Saddi R, Wacjman H, Levy R, Thibult N, Duchateau A. [Haemoglobin AIc in patients on venesection therapy for haemochromatosis (author’s transl)]. Diabete Metab. 1982 Jun;8(2):137–40.
25. McDermott JH, Walsh CH. Extensive clinical experience: Hypogonadism in hereditary hemochromatosis. J Clin Endocrinol Metab. 2005;90(4):2451–5.
26. Cherfane CE, Hollenbeck RD, Go J, Brown KE. Hereditary hemochromatosis: Missed diagnosis or misdiagnosis? Am J Med [Internet]. 2013;126(11):1010–5. Available from: http://dx.doi.org/10.1016/j.amjmed.2013.07.013
27. Salgia RJ, Brown K. Diagnosis and management of hereditary hemochromatosis. Clin Liver Dis [Internet]. 2015;19(1):187–98. Available from: http://dx.doi.org/10.1016/j.cld.2014.09.011
28. Assi TB, Baz E. Current applications of therapeutic phlebotomy. Blood Transfus. 2014;12(SUPPL.1).
29. Porter JB, de Witte T, Cappellini MD, Gattermann N. New insights into transfusion-related iron toxicity: Implications for the oncologist. Crit Rev Oncol Hematol [Internet]. 2016;99(2016):261–71. Available from: http://dx.doi.org/10.1016/j.critrevonc.2015.11.017
30. Kim KH, Oh KY. Indications for therapeutic phlebotomy Polycythemia vera. J Blood Med. 2016;7:139–44.
31. Kontoghiorghes GJ, Spyrou A, Kolnagou A. Iron chelation therapy in hereditary hemochromatosis and thalassemia intermedia: regulatory and non regulatory mechanisms of increased iron absorption. Hemoglobin. 2010;34(3):251–64.
32. Mobarra N, Shanaki M, Ehteram H, Nasiri H, Sahmani M, Saeidi M, et al. A Review on Iron Chelators in Treatment of Iron. Int J Hematol Stem Cell Res. 2016;10(4):239–47.
33. Kowdley K V., Brandhagen DJ, Gish RG, Bass NM, Weinstein J, Schilsky ML, et al. Survival After Liver Transplantation in Patients With Hepatic Iron Overload: The National Hemochromatosis Transplant Registry. Gastroenterology. 2005;129(2):494–503.
34. McLaren GD, Gordeuk VR. Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Hematology Am Soc Hematol Educ Program. 2009;23(11):195–206.
2. Rawla P, Health S. Hemochromatosis Hemochromatosis Pathophysiology. 2019;(February).
3. Tavill AS, Adams PC. A diagnostic approach to hemochromatosis. Can J Gastroenterol. 2006;20(8):535–40.
4. O’Neil, Jillian, and Lawrie Powell. “Clinical aspects of hemochromatosis.” Seminars in liver disease. Vol. 25. No. 04. Copyright© 2005 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA., 2005. 2005;25(04):17–9.
5. A novel MHC class I- Like gene is mutated in patients with hereditary haemochromatosis. © 199 6 Nature Publishing Group httpwww.nature.comnaturebiotechnology.
6. Poddar S. Hereditary Hemochromatosis-Special Reference to Indian Scenario. Int J Hum Genet. 2006;6(1):73–9.
7. Majul CA. Edwards, Corwin Q., et al. “Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.” New England Journal of Medicine 318.21 (1988): 1355-1362. 1988;1(2):12–7.
8. Gabetta. Hallberg, L., E. Björn‐Rasmussen, and I. Jungner. “Prevalence of hereditary haemochromatosis in two Swedish urban areas.” Journal of internal medicine 225.4 (1989): 249-255. NBER Work Pap Ser [Internet]. 1989;58(58):99–104. Available from: https://www.unhcr.org/publications/manuals/4d9352319/unhcr-protection-training-manual-european-border-entry-officials-2-legal.html?query=excom 1989
9. Tavill AS. Diagnosis and management of hemochromatosis. Hepatology. 2001;33(5):1321–8.
10. Pietrangelo A. Hereditary Hemochromatosis — A New Look at an Old Disease. N Engl J Med. 2004;350(23):2383–97.
11. Pietrangelo A. Non-HFE hemochromatosis. InSeminars in liver disease 2005 Nov (Vol. 25, No. 04, pp. 450-460). Copyright© 2005 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. 2005;25(04):17–9.
12. Koshy A, Mukkada RJ, Chettupuzha AP, Francis J V., Kandathil JC, Mahadevan P. Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature. J Clin Exp Hepatol [Internet]. 2020;10(2):163–9. Available from: https://doi.org/10.1016/j.jceh.2019.04.051
13. Joshi R, Shvartsman M, Moran E, Lois S, Aranda J, Barque A, et al. Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. Mol Genet Genomic Med. 2015;3(3):221–32.
14. Bardou-Jacquet E, Brissot P. Diagnostic evaluation of hereditary hemochromatosis (HFE and Non-HFE). Hematol Oncol Clin North Am [Internet]. 2014;28(4):625–35. Available from: http://dx.doi.org/10.1016/j.hoc.2014.04.006
15. Yun S, Vincelette ND. Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis. Crit Rev Oncol Hematol [Internet]. 2015;95(1):12–25. Available from: http://dx.doi.org/10.1016/j.critrevonc.2015.02.006
16. Tembo R. Discussing Why Hemochromatosis is Ignored (A Common but Rarely Diagnosed Disease). Intern Med Res - Open J. 2016;1(1):1–5.
17. Bacon BR, Adams PC, Kowdley K V., Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328–43.
18. Porter JL, Rawla P. Hemochromatosis. [Updated 2023 Mar 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430862/. 2024;430862.
19. Pietrangelo A. Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment. Gastroenterology [Internet]. 2010;139(2):393-408.e2. Available from: http://dx.doi.org/10.1053/j.gastro.2010.06.013
20. CLINICAL AND BIOCHEMICAL ABNORMALITIES IN PEOPLE HETEROZYGOUS FOR HEMOCHROMATOSIS Z ANETA J. B ULAJ , M.D., L INDA M. G RIFFEN , B.A., L YNN B. J ORDE , P H .D., C ORWIN Q. E DWARDS , M.D., AND. 2010;(May 1999):1–6.
21. Rorden C, Pratik K. Mutha, Robert L. Sainburg KYH. Differences in Hepatic Phenotype Between Hemochromatosis Patients with HFE C282Y Homozygosity and Other HFE Genotypes. Bone. 2008;23(1):1–7.
22. T R, Jr M. Pathophysiology in Medicine: Hepcidin and iron regulation in health and disease. 1§§. 2014;345(1):57–60.
23. Gandon Y, Olivié D, Guyader D, Aubé C, Oberti F, Sebille V, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet (London, England). 2004 Jan;363(9406):357–62.
24. Eschwege E, Saddi R, Wacjman H, Levy R, Thibult N, Duchateau A. [Haemoglobin AIc in patients on venesection therapy for haemochromatosis (author’s transl)]. Diabete Metab. 1982 Jun;8(2):137–40.
25. McDermott JH, Walsh CH. Extensive clinical experience: Hypogonadism in hereditary hemochromatosis. J Clin Endocrinol Metab. 2005;90(4):2451–5.
26. Cherfane CE, Hollenbeck RD, Go J, Brown KE. Hereditary hemochromatosis: Missed diagnosis or misdiagnosis? Am J Med [Internet]. 2013;126(11):1010–5. Available from: http://dx.doi.org/10.1016/j.amjmed.2013.07.013
27. Salgia RJ, Brown K. Diagnosis and management of hereditary hemochromatosis. Clin Liver Dis [Internet]. 2015;19(1):187–98. Available from: http://dx.doi.org/10.1016/j.cld.2014.09.011
28. Assi TB, Baz E. Current applications of therapeutic phlebotomy. Blood Transfus. 2014;12(SUPPL.1).
29. Porter JB, de Witte T, Cappellini MD, Gattermann N. New insights into transfusion-related iron toxicity: Implications for the oncologist. Crit Rev Oncol Hematol [Internet]. 2016;99(2016):261–71. Available from: http://dx.doi.org/10.1016/j.critrevonc.2015.11.017
30. Kim KH, Oh KY. Indications for therapeutic phlebotomy Polycythemia vera. J Blood Med. 2016;7:139–44.
31. Kontoghiorghes GJ, Spyrou A, Kolnagou A. Iron chelation therapy in hereditary hemochromatosis and thalassemia intermedia: regulatory and non regulatory mechanisms of increased iron absorption. Hemoglobin. 2010;34(3):251–64.
32. Mobarra N, Shanaki M, Ehteram H, Nasiri H, Sahmani M, Saeidi M, et al. A Review on Iron Chelators in Treatment of Iron. Int J Hematol Stem Cell Res. 2016;10(4):239–47.
33. Kowdley K V., Brandhagen DJ, Gish RG, Bass NM, Weinstein J, Schilsky ML, et al. Survival After Liver Transplantation in Patients With Hepatic Iron Overload: The National Hemochromatosis Transplant Registry. Gastroenterology. 2005;129(2):494–503.
34. McLaren GD, Gordeuk VR. Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Hematology Am Soc Hematol Educ Program. 2009;23(11):195–206.
Published
05/04/2024
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Srivastav, Y., A. Singh, M. F. Mansoori, and K. Madhaw. “Concise Summary: Hemochromatosis Along With Its Cure”. International Journal of Health Care and Biological Sciences, Vol. 5, no. 1, Apr. 2024, pp. 6-12, doi:10.46795/ijhcbs.v5i1.574.
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