A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism

Üçler, Rıfkı; Kara, Erdal; Atmaca, Murat; Ölmez, Şehmus; Alay, Murat; Dirik, Yaren; Bora, Aydın

doi:10.1155/2015/493091

Cited by 5 publications

(3 citation statements)

References 13 publications

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“…However, there was a significant decrease in TIBC and UIBC (P=0.001) in HbE/β-thalassemia patients compared with the two other groups. These findings were in agreement with previous studies reporting that TIBC and UIBC are significantly decreased in β-thalassemia patients compared with healthy controls (48,49).…”

Section: Discussionsupporting

confidence: 94%

Reduced hepcidin expression enhances iron overload in patients with HbE/β‑thalassemia: Α comparative cross‑sectional study

et al. 2021

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Iron homeostasis is regulated by hepcidin (HEPC) that controls the dietary iron absorption and iron recycling. HEPC deficiency contributes to iron overload in β-thalassemia patients. The present study aimed to investigate the correlation between HEPC concentration and serum iron status among hemoglobin E (HbE)/β-thalassemia patients and their parents (HbE trait and β-thalassemia trait) compared with healthy controls. This study is a comparative cross-sectional study in which iron profile and HEPC level were examined in 65 HbE/β-thalassemia patients (pretransfusion) and 65 parents at the Hospital Sultanah Nur Zahirah and in 130 students as healthy controls from Univesiti Sultan Zainal Abidin, Terengganu, Malaysia. Furthermore, six samples from each group (HbE/β-thalassemia patients, parents and healthy controls) were randomly selected for gene expression analysis of HEPC and ferroportin1 (FPN1) using reverse transcription quantitative PCR. The results demonstrated that serum HEPC level were significantly decreased in HbE/β-thalassemia patients and their parents (P<0.001) compared with healthy controls. In addition, the gene expression analysis showed a dramatically downregulated HEPC in HbE/β-thalassemia patients and their parents (P= 0.001) compared with healthy controls. However, there was a marked upregulation of FPN1 in HbE/β-thalassemia patients and their parents (P=0.001) compared with healthy controls. Iron profiling results revealed a significantly increased serum ferritin in HbE/β-thalassemia patients and their parents compared with healthy controls (P<0.001). In summary, the present study demonstrated that HEPC expression level and serum level were significantly decreased in HbE/β-thalassemia patients and their parents, which was combined with a marked increased FPN1 expression level and serum ferritin level compared with healthy volunteers. These findings supported the hypothesis that downregulated HEPC could lose its function as a negative regulator of FPN1, resulting in iron overload in HbE/β-thalassemia patients. Subsequently, assessing HEPC and FPN1 gene expression may be a useful tool to determine the risk of iron toxicity in patients with HbE/β-thalassemia and their parents, and could therefore be considered as a therapeutic target in the management of iron burden in these patients.

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Section: Discussionsupporting

confidence: 94%

Reduced hepcidin expression enhances iron overload in patients with HbE/β‑thalassemia: Α comparative cross‑sectional study

et al. 2021

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“…Cellular dysfunction and necrosis of the target organ occur due to reactive oxygen species produced during the metabolism of iron. 2,5,7 This target organ damage is hemochromatosis, whereas hemosiderosis is iron accumulation without organ damage.…”

Section: Discussionmentioning

confidence: 99%

“…Despite iron chelation therapy, iron accumulation occurs in these patients in various organs. [2][3][4] Increased iron deposition in the anterior pituitary gland results in hypogonadotropic hypogonadism and growth failure. Cell death probably due to iron toxicity plays a vital role in this failure of the anterior pituitary gland.…”

Section: Introductionmentioning

confidence: 99%

Transfusion-Related Hemochromatosis Involving Pituitary Gland in a Patient of Beta-Thalassemia Major

et al. 2022

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Introduction: Hemochromatosis of the pituitary gland is a form of iron overload disease which occurs in different clinical conditions related to multiple blood transfusions. Case Presentation: We present a case of secondary hemochromatosis involving the pituitary gland and choroid plexus in an eightyear-old female with imaging findings and a review of the relevant literature. Our patient has had a history of cessation of growth in height for the last 1 year. She was diagnosed with a thalassemia major at the age of 6 months. She has been on regular blood transfusions since then. Magnetic resonance imaging (MRI) revealed evidence of iron deposition in the pituitary gland. Conclusion: This diagnosis should be suspected on clinical presentation and history of multiple blood transfusions. It can be confirmed based on characteristic imaging findings. The patient should be strictly monitored with serum iron levels, and a tailored iron chelation therapy should be initiated.

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Decellularization of various tissues and organs through chemical methods

Tabatabai,

Salehi,

Rezakhani

et al. 2024

Tissue and Cell

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A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism

Cited by 5 publications

References 13 publications

Reduced hepcidin expression enhances iron overload in patients with HbE/β‑thalassemia: Α comparative cross‑sectional study

Reduced hepcidin expression enhances iron overload in patients with HbE/β‑thalassemia: Α comparative cross‑sectional study

Transfusion-Related Hemochromatosis Involving Pituitary Gland in a Patient of Beta-Thalassemia Major

Decellularization of various tissues and organs through chemical methods

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