Hereditary Hemochromatosis and Alpha-Thalassemia Presenting with Diabetes Mellitus: A Rare Case Report
A Rare Case Report
Abstract
Hereditary hemochromatosis (HH) is a rare genetic disorder, causing systemic iron overload. High amounts of iron in the bloodstream gradually oversaturate the trans- ferrin which can cause sedimentation of iron in the pancreas, liver, heart, pituitary and joints, though it can establish multiorgan involvements. We present a case of TFR2 (type 3) HH who had minor α-thalassemia and uncontrolled diabetes mellitus, and discuss the clinical presentation and patient management. A 33-year-old man with type 3 HH and alpha-thalassemia trait, presented with uncon- trolled diabetes mellitus, skin hyperpigmentation and hypogonadism. The patient had high blood glucose ,despite the administration of 80 units of Glargine and 80 units of Aspart insulins per day, but after changing them into human insulins, his diabetes mellitus was surprisingly controlled with only 32 units of NPH and 18 units of Regular insulins. Furthermore, he was treated with testosterone (due to hypogonadism) and Deferasirox (due to iron overload).
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[2] Brissot P, Ropert M, Le Lan C, Loréal OJBeBA-GS. Non- transferrin bound iron: a key role in iron overload and iron toxicity. 2012;1820(3):403-10. https://doi.org/10.1016/j. bbagen.2011.07.014
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[4] Utzschneider KM, Kowdley KVJNRE. Hereditary hemochromatosis and diabetes mellitus: implications for clinical practice. 2010;6(1):26. https://doi.org/10.1038/nrendo.2009.241
[5] Husar-Memmer E, Stadlmayr A, Datz C, Zwerina JJCrr. HFE- related hemochromatosis: an update for the rheumatologist. 2014;16(1):393. https://doi.org/10.1007/s11926-013-0393-4
[6] Chen J, Enns CA. Hereditary hemochromatosis and transferrin receptor 2. Biochimica et biophysica acta. 2012;1820(3):256- 63. https://doi.org/10.1016/j.bbagen.2011.07.015
[7] Kawabata H, Nakamaki T, Ikonomi P, Smith RD, Germain RS, Koeffler HPJB, The Journal of the American Society of Hematology. Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells. 2001;98(9):2714-9. https://doi. org/10.1182/blood.V98.9.2714
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[9] Muncie HL, Jr., Campbell J. Alpha and beta thalassemia. American family physician. 2009;80(4):339-44. Link
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[11] Murugan RC, Lee PL, Kalavar MR, Barton JC. Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent. Clinical genetics. 2008;74(1):88- 92. https://doi.org/10.1111/j.1399-0004.2008.01017.x
[12] Barton JC, Edwards CQ, Bertoli LF, Shroyer TW, Hudson SL. Iron overload in African Americans. The American journal of medicine. 1995;99(6):616-23. https://doi.org/10.1016/s0002- 9343(99)80248-4
[13] O’Sullivan EP, McDermott JH, Murphy MS, Sen S, Walsh CH. Declining prevalence of diabetes mellitus in hereditary haemochromatosis--the result of earlier diagnosis. Diabetes research and clinical practice. 2008;81(3):316-20. https://doi. org/10.1016/j.diabres.2008.05.001
[14] Piperno A, Pelucchi S, Mariani R. Inherited iron overload disorders. Translational gastroenterology and hepatology. 2020;5:25. https://doi.org/:10.21037/tgh.2019.11.15
[15] McNeil L, McKee Jr L, Lorber D, Rabin DJTAjotms. The endocrine manifestations of hemochromatosis. 1983;285(3):7- 13. https://doi.org/10.1097/00000441-198305000-00002
[16] Wallace DF, Subramaniam VNJGiM. The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. 2016;18(6):618-26. https:// doi.org/10.1038/gim.2015.140
[17] Crownover BK, Covey CJ. Hereditary hemochromatosis. American family physician. 2013;87(3):183-90. Link
[18] Barton JC, Acton RT. Diabetes in HFE Hemochromatosis. Journal of diabetes research. 2017;2017:9826930. https://doi. org/10.1155/2017/9826930
[19] Pelusi C, Gasparini DI, Bianchi N, Pasquali R. Endocrine dysfunction in hereditary hemochromatosis. Journal of endocrinological investigation. 2016;39(8):837-47. https://doi. org/10.1007/s40618-016-0451-7
[2] Brissot P, Ropert M, Le Lan C, Loréal OJBeBA-GS. Non- transferrin bound iron: a key role in iron overload and iron toxicity. 2012;1820(3):403-10. https://doi.org/10.1016/j. bbagen.2011.07.014
[3] Deugnier Y, Turlin B, editors. Pathology of hepatic iron overload. Seminars in liver disease; 2011: © Thieme Medical Publishers. https://doi.org/10.1007/978-1-60327-485-2_17
[4] Utzschneider KM, Kowdley KVJNRE. Hereditary hemochromatosis and diabetes mellitus: implications for clinical practice. 2010;6(1):26. https://doi.org/10.1038/nrendo.2009.241
[5] Husar-Memmer E, Stadlmayr A, Datz C, Zwerina JJCrr. HFE- related hemochromatosis: an update for the rheumatologist. 2014;16(1):393. https://doi.org/10.1007/s11926-013-0393-4
[6] Chen J, Enns CA. Hereditary hemochromatosis and transferrin receptor 2. Biochimica et biophysica acta. 2012;1820(3):256- 63. https://doi.org/10.1016/j.bbagen.2011.07.015
[7] Kawabata H, Nakamaki T, Ikonomi P, Smith RD, Germain RS, Koeffler HPJB, The Journal of the American Society of Hematology. Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells. 2001;98(9):2714-9. https://doi. org/10.1182/blood.V98.9.2714
[8] Pantopoulos K. Inherited Disorders of Iron Overload. Frontiers in nutrition. 2018;5:103. https://doi.org/10.3389/ fnut.2018.00103
[9] Muncie HL, Jr., Campbell J. Alpha and beta thalassemia. American family physician. 2009;80(4):339-44. Link
[10] Oliveira T, Souza F, Jardim A, Cordeiro J, Pinho J, Sitnik R et al. HFE gene mutations in Brazilian thalassemic patients. 2006;39(12): 1575-80. https://doi.org/10.1590/S0100-879X2006001200008
[11] Murugan RC, Lee PL, Kalavar MR, Barton JC. Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent. Clinical genetics. 2008;74(1):88- 92. https://doi.org/10.1111/j.1399-0004.2008.01017.x
[12] Barton JC, Edwards CQ, Bertoli LF, Shroyer TW, Hudson SL. Iron overload in African Americans. The American journal of medicine. 1995;99(6):616-23. https://doi.org/10.1016/s0002- 9343(99)80248-4
[13] O’Sullivan EP, McDermott JH, Murphy MS, Sen S, Walsh CH. Declining prevalence of diabetes mellitus in hereditary haemochromatosis--the result of earlier diagnosis. Diabetes research and clinical practice. 2008;81(3):316-20. https://doi. org/10.1016/j.diabres.2008.05.001
[14] Piperno A, Pelucchi S, Mariani R. Inherited iron overload disorders. Translational gastroenterology and hepatology. 2020;5:25. https://doi.org/:10.21037/tgh.2019.11.15
[15] McNeil L, McKee Jr L, Lorber D, Rabin DJTAjotms. The endocrine manifestations of hemochromatosis. 1983;285(3):7- 13. https://doi.org/10.1097/00000441-198305000-00002
[16] Wallace DF, Subramaniam VNJGiM. The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. 2016;18(6):618-26. https:// doi.org/10.1038/gim.2015.140
[17] Crownover BK, Covey CJ. Hereditary hemochromatosis. American family physician. 2013;87(3):183-90. Link
[18] Barton JC, Acton RT. Diabetes in HFE Hemochromatosis. Journal of diabetes research. 2017;2017:9826930. https://doi. org/10.1155/2017/9826930
[19] Pelusi C, Gasparini DI, Bianchi N, Pasquali R. Endocrine dysfunction in hereditary hemochromatosis. Journal of endocrinological investigation. 2016;39(8):837-47. https://doi. org/10.1007/s40618-016-0451-7
| Files | ||
| Issue | Vol 7 No 3 (2022): May-June | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v7i3.11125 | |
| Keywords | ||
| Hemochromatosis Alpha-thalassemia Diabetes mellitus Hypogonadism | ||
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How to Cite
1.
Farhangi P, Hajmiri M, Shirzad N, Hemmatabadi M. Hereditary Hemochromatosis and Alpha-Thalassemia Presenting with Diabetes Mellitus: A Rare Case Report. CRCP. 2022;7(3):144-147.
