Wilson's disease (WD) is an autosomal recessive disorder that impairs copper metabolism. Copper accumulates in vital organs such as the brain, liver, and kidneys. The disease typically starts with copper accumulation in the liver and can initially present as acute hepatitis and hepatomegaly. Hemolytic anemia is a typically uncommon complication of WD. We present the case of a healthy 18-year-old female who presented with hemolytic anemia and quickly decompensated to fulminant hepatic failure requiring a liver transplant due to previously undiagnosed WD. This case recognizes the importance of early diagnosis as treatment can be lifesaving.
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http://dx.doi.org/10.7759/cureus.62966 | DOI Listing |
BMJ Case Rep
January 2025
Internal Medicine, East Suffolk and North Essex NHS Foundation Trust Ipswich Hospital, Ipswich, UK.
This case report presents a complex medical scenario involving early 60s female patient with a history of chronic lymphocytic leukaemia (CLL) complicated by Evans syndrome, characterised by autoimmune haemolytic anaemia and immune thrombocytopenia. The patient had received various treatments, including steroids, rituximab, cyclosporine and acalabrutinib. The patient's neurological symptoms began around 3 years prior to presentation, with shaking of her right leg, followed by shaking of both hands, particularly the left hand.
View Article and Find Full Text PDFAnn Hematol
January 2025
Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325035, China.
Background: Autoimmune hemolytic anemia (AIHA) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) is often refractory and relapsing, leading to increased mortality post-HSCT.
Methods: We retrospectively analyzed the cases of patients with transfusion-dependent β-thalassemia (TDT) who underwent allo-HSCT to study their clinical features, the occurrence of AIHA post-HSCT, and treatment response and to explore the possible pathogenesis of AIHA.
Result: A total of 113 patients were registered in the study, out of whom 14 developed AIHA following allo-HSCT, resulting in a cumulative incidence of 12.
Alzheimers Dement
December 2024
Center of Excellence in Cardiac Electrophysiology Research, Chiang Mai University, Chiang Mai, Thailand.
Background: Thalassemia is a hereditary disease with impaired red blood cell production, resulting in cumulative systemic iron burden. The life-long therapeutic blood transfusion with or without iron chelators in those patients leads to the development of early-onset neurocognitive decline. However, the effects of regularity of blood transfusion on the severity of iron burden, cognitive decline, and gut dysbiosis in thalassemia patients are still unclear.
View Article and Find Full Text PDFBMC Mol Cell Biol
January 2025
Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok, Thailand.
Iron overload has been associated with cerebrovascular disease and cognitive impairment in β-thalassaemia patients, typically appearing earlier than in the general population. However, the mechanisms of iron overload on cerebrovascular pathology remain unclear. This study investigated the effects of heavy iron overload on the blood-brain barrier and neurohistology, particularly in the CA3 region of hippocampus and its contribution to cognitive impairment in β-thalassaemia mice.
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