Cargando…
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease
Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutation in HFE and is relatively well understood in significance...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369226/ https://www.ncbi.nlm.nih.gov/pubmed/34413666 http://dx.doi.org/10.2147/TACG.S269622 |
_version_ | 1783739248559521792 |
---|---|
author | Kowdley, Devan S Kowdley, Kris V |
author_facet | Kowdley, Devan S Kowdley, Kris V |
author_sort | Kowdley, Devan S |
collection | PubMed |
description | Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutation in HFE and is relatively well understood in significance and action; however, other rare forms of HH (Types 2–4) exist and are more difficult to identify and diagnose in clinical practice. In this review, we describe the clinical characteristics of HH Type 2–4 and the mutation patterns that have been described in these conditions. We also review the different methods for genetic testing available in clinical practice and a pragmatic approach to the patient with suspected non-HFE HH. |
format | Online Article Text |
id | pubmed-8369226 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-83692262021-08-18 Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease Kowdley, Devan S Kowdley, Kris V Appl Clin Genet Review Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutation in HFE and is relatively well understood in significance and action; however, other rare forms of HH (Types 2–4) exist and are more difficult to identify and diagnose in clinical practice. In this review, we describe the clinical characteristics of HH Type 2–4 and the mutation patterns that have been described in these conditions. We also review the different methods for genetic testing available in clinical practice and a pragmatic approach to the patient with suspected non-HFE HH. Dove 2021-08-12 /pmc/articles/PMC8369226/ /pubmed/34413666 http://dx.doi.org/10.2147/TACG.S269622 Text en © 2021 Kowdley and Kowdley. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Review Kowdley, Devan S Kowdley, Kris V Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease |
title | Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease |
title_full | Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease |
title_fullStr | Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease |
title_full_unstemmed | Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease |
title_short | Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease |
title_sort | appropriate clinical genetic testing of hemochromatosis type 2–4, including ferroportin disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369226/ https://www.ncbi.nlm.nih.gov/pubmed/34413666 http://dx.doi.org/10.2147/TACG.S269622 |
work_keys_str_mv | AT kowdleydevans appropriateclinicalgenetictestingofhemochromatosistype24includingferroportindisease AT kowdleykrisv appropriateclinicalgenetictestingofhemochromatosistype24includingferroportindisease |