Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene
Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromat...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2022/7743748 |
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| _version_ | 1832550776477581312 |
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| author | María-Belén Moreno-Risco Manuel Méndez María-Isabel Moreno-Carralero Ana-María López-Moreno José-Manuel Vagace-Valero María-José Morán-Jiménez |
| author_facet | María-Belén Moreno-Risco Manuel Méndez María-Isabel Moreno-Carralero Ana-María López-Moreno José-Manuel Vagace-Valero María-José Morán-Jiménez |
| author_sort | María-Belén Moreno-Risco |
| collection | DOAJ |
| description | Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, and FTH1. We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient. |
| format | Article |
| id | doaj-art-e91b9fcbb19c4f32b7397fc33ef4c9a8 |
| institution | Kabale University |
| issn | 2090-6811 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-e91b9fcbb19c4f32b7397fc33ef4c9a82025-02-03T06:05:51ZengWileyCase Reports in Pediatrics2090-68112022-01-01202210.1155/2022/7743748Juvenile Hemochromatosis due to a Homozygous Variant in the HJV GeneMaría-Belén Moreno-Risco0Manuel Méndez1María-Isabel Moreno-Carralero2Ana-María López-Moreno3José-Manuel Vagace-Valero4María-José Morán-Jiménez5Servicio de Hematología y HemoterapiaInstituto de Investigación Sanitaria Hospital 12 de Octubre (imas12)Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12)Servicio de RadiologíaServicio de Hematología y HemoterapiaInstituto de Investigación Sanitaria Hospital 12 de Octubre (imas12)Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, and FTH1. We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient.http://dx.doi.org/10.1155/2022/7743748 |
| spellingShingle | María-Belén Moreno-Risco Manuel Méndez María-Isabel Moreno-Carralero Ana-María López-Moreno José-Manuel Vagace-Valero María-José Morán-Jiménez Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene Case Reports in Pediatrics |
| title | Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene |
| title_full | Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene |
| title_fullStr | Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene |
| title_full_unstemmed | Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene |
| title_short | Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene |
| title_sort | juvenile hemochromatosis due to a homozygous variant in the hjv gene |
| url | http://dx.doi.org/10.1155/2022/7743748 |
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