The Effect of Long-Term Iron Chelator Therapy on Serum Levels of Hepcidin and Ferritin in Patients with Thalassemia Major and Intermediate

Hossaini, Seyed Kamal Eshagh; Haeri, Mohammad Reza; Seif, Faezeh

doi:10.1007/s12288-022-01533-1

Cited by 2 publications

(1 citation statement)

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“…Many studies have indicated a strong correlation between iron overload and various morbidities in NTDT patients. [ 25 ] Therefore, early detection and iron chelation treatment are needed; iron chelation treatment should be initiated as early as possible for the proband in this study.…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report

Wang,

Deng,

Peng

et al. 2024

Medicine

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Rationale: Compound heterozygotes for deletional β-thalassemia can be difficult to diagnose due to its diverse clinical presentations and no routine screenings. This can lead to disease progression and delay in treatment. Patient concerns: We reported pedigree analysis and genetic research in a family with rare β-thalassemia. Diagnosis: Pedigree analysis and genetic research demonstrated that the patient was a compound heterozygote for β-thalassemia CD17/Southeast Asian hereditary persistence of fetal hemoglobin deletion, inherited from the parents. Magnetic resonance imaging T2* examination revealed severe iron deposition in the liver. Echocardiography revealed endocardial cushion defect. Interventions: The patient was treated with Deferasirox after receiving the final molecular genetic diagnosis. The initial once-daily dose of Deferasirox was 20 mg/kg/d. Outcomes: The patient discontinued the medication three months after the first visit. Two years later, the patient visited the Department of Hepatobiliary and Pancreatic Diseases. He was recommended to undergo splenectomy after surgical repair of the congenital heart disease. However, the patient refused surgical treatment because of the economic burden. Lessons: We report that fetal hemoglobin is a sensitive indicator for screening large deletions of the β-globin gene, which can be effectively confirmed by the multiplex ligation-dependent probe amplification assay. In non-transfusion-dependent thalassemia patients, iron status assessment should be regularly performed, and iron chelation treatment should be initiated early. This case will provide insights for the diagnosis of rare genotypes of β-thalassemia and has important implications for genetic counseling.

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Section: Discussionmentioning

confidence: 99%