Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review

Alqanatish, Jubran; Alsowailmi, Banan; Alfarhan, Haneen; Alhamzah, Albandari; Al-Harbi, Talal

doi:10.2147/oarrr.s276112

Cited by 4 publications

(5 citation statements)

References 39 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The C.II.2 proband carries a nonsense mutation (p.Gln672Ter, Figure 4 b lower panel) that was previously reported in a pediatric patient in heterozygous state in combination with a second nonsense mutation in TFR2 in a Spanish patient [ 23 ]. In our patient, the mutation is in a homozygous state.…”

Section: Resultsmentioning

confidence: 85%

“…Dimeric , Transferrin Receptor-like dimerization region; TM , transmembrane domain; PA , Protease-Associated domain. Image adapted from Joshi et al [ 23 ].…”

Section: Figurementioning

confidence: 99%

“…Up to date, 98 patients from 87 different families with non-HFE related HH due to pathogenic mutations in the HFE2 gene have been described in the literature ( Table A1 ) [ 22 , 23 ]. As we can see in Figure 2 , the mutations are scattered across the length of the HJV protein, with no evident clustering.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

Hernández

Ferrer‐Cortès

Venturi

et al. 2021

Genes

View full text Add to dashboard Cite

Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.

show abstract

Section: Resultsmentioning

confidence: 85%

“…Dimeric , Transferrin Receptor-like dimerization region; TM , transmembrane domain; PA , Protease-Associated domain. Image adapted from Joshi et al [ 23 ].…”

Section: Figurementioning

confidence: 99%

See 1 more Smart Citation

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

Hernández

Ferrer‐Cortès

Venturi

et al. 2021

Genes

View full text Add to dashboard Cite

show abstract

“…This is particularly critical during childhood in the heart, pancreas, and pituitary gland that would lead to multiorgan dysfunction. Iron chelation is a treatment to reduce iron overload; this therapy has also been reported to reverse end-stage heart failure and to improve hematological and clinical parameters in patients with juvenile hemochromatosis [ 13 – 15 ].…”

Section: Discussionmentioning

confidence: 99%

Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene

Moreno-Risco

Méndez

Moreno-Carralero

et al. 2022

Case Reports in Pediatrics

View full text Add to dashboard Cite

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.

show abstract

“…The term hemochromatosis encompasses a group of disorders caused by iron overload. HH is the most common disorder belonging to this group that is caused by the mutation of the homeostatic iron regulator (HFE) gene (Alqanatish et al, 2021). Most patients suffering from HH in northern Europe are homozygous.…”

Section: Osteoarthritic Joint Complications In Hereditary Hemochromat...mentioning

confidence: 99%

Interplay Between Iron Overload and Osteoarthritis: Clinical Significance and Cellular Mechanisms

Cai

Chu

2022

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

There are multiple diseases or conditions such as hereditary hemochromatosis, hemophilia, thalassemia, sickle cell disease, aging, and estrogen deficiency that can cause iron overload in the human body. These diseases or conditions are frequently associated with osteoarthritic phenotypes, such as progressive cartilage degradation, alterations in the microarchitecture and biomechanics of the subchondral bone, persistent joint inflammation, proliferative synovitis, and synovial pannus. Growing evidences suggest that the conditions of pathological iron overload are associated with these osteoarthritic phenotypes. Osteoarthritis (OA) is an important complication in patients suffering from iron overload-related diseases and conditions. This review aims to summarize the findings and observations made in the field of iron overload-related OA while conducting clinical and basic research works. OA is a whole-joint disease that affects the articular cartilage lining surfaces of bones, subchondral bones, and synovial tissues in the joint cavity. Chondrocytes, osteoclasts, osteoblasts, and synovial-derived cells are involved in the disease. In this review, we will elucidate the cellular and molecular mechanisms associated with iron overload and the negative influence that iron overload has on joint homeostasis. The promising value of interrupting the pathologic effects of iron overload is also well discussed for the development of improved therapeutics that can be used in the field of OA.

show abstract

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review

Cited by 4 publications

References 39 publications

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene

Interplay Between Iron Overload and Osteoarthritis: Clinical Significance and Cellular Mechanisms

Contact Info

Product

Resources

About