3,142 results match your criteria: "Pure Red Cell Aplasia"
An unusual cause of neonatal hypothermia and shock in the emergency department: Diamond Blackfan Anemia.
Am J Emerg Med
October 2024
Department of Pediatrics, Washington University, St. Louis Children's Hospital, St. Louis, MO, United States of America.
Article Synopsis
- - Diamond Blackfan Anemia (DBA) is a rare condition that leads to anemia due to the bone marrow's failure to produce red blood cells, as illustrated by a case involving a seven-week-old infant.
- - The infant presented to the emergency department with abnormal breathing, severe lethargy, and hypothermia, showing critical lab results including hemoglobin levels as low as 1.7 g/dL.
- - The case underscores the importance of comprehensive medical assessments and considering a wide range of causes for neonatal hypothermia and shock, particularly when there are no clear signs of bleeding.
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
JCI Insight
August 2024
MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.
Article Synopsis
- - Diamond-Blackfan anemia syndrome (DBA) is caused by mutations in over 20 ribosomal protein genes, and this study specifically investigates the role of RPL17, which encodes a large ribosomal subunit protein.
- - Patients with RPL17 mutations exhibited typical DBA symptoms and erythroid proliferation defects, with further experiments showing that these mutations are pathogenic and lead to anemia in model organisms.
- - The research found that RPL17 variants result in defects in ribosomal RNA maturation and suggest that DBA primarily stems from insufficient ribosome production rather than changes in ribosome structure, as indicated by altered translation profiles in cell lines.
Transient erythroblastopenia of childhood after COVID-19 infection: a case report.
Ital J Pediatr
July 2024
Department of Woman, Child and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio, Naples, 80138, Italy.
Article Synopsis
- Transient erythroblastopenia of childhood (TEC) is a rare condition affecting children, typically linked to viral and immune factors, and has now been associated with COVID-19.
- A case is presented of a child with severe red blood cell depletion and absent erythroblasts in the bone marrow after a SARS-CoV-2 infection, showing signs similar to a known severe immune disorder (HLH).
- The report suggests that COVID-19 can induce TEC and emphasizes the need to include it in assessments of patients with unexplained red blood cell production issues, considering its relation to diseases like MIS-C.
Pure red cell aplasia secondary to erythropoietin therapy.
Clin Med (Lond)
July 2024
Department of Nephrology at Ysbyty Gwynedd, Wales.
We report a case series of two patients with chronic kidney disease (CKD) who developed erythropoietin-induced pure red cell aplasia following a change in erythropoietin preparation. Both patients responded well to immunosuppressive treatments, but unfortunately developed severe infections as a result of being immunosuppressed.
View Article and Find Full Text PDFPure red cell aplasia among ABO mismatched hematopoietic stem cell transplant recipients: a 13-years retrospective study and literature review.
Front Oncol
July 2024
Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica e Ematologia; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Article Synopsis
- Pure red cell aplasia (PRCA) can occur after major ABO mismatched hemopoietic stem cell transplantation, leading to prolonged anemia and increased need for blood transfusions.
- A study reviewed literature on PRCA treatments and analyzed 194 patients over 13 years, identifying key risk factors such as older age and specific antibody levels.
- Successful treatment options included plasma-exchange, immunoadsorption, and medications like daratumumab; notably, pre-HSCT IgG antibody levels were highlighted as a significant risk factor for developing PRCA.
Neuromyelitis Optica spectrum disorder complicated with pure red cell aplasia: a case report.
BMC Neurol
July 2024
Department of Hematology, The Second Affiliated Hospital of Baotou Medical College, Inner Mongolia University of Science and Technology, Baotou, 014030, China.
Article Synopsis
- - A 54-year-old female patient with neuromyelitis optica spectrum disorder (NMOSD) developed pure red cell aplasia (PRCA), a rare condition not previously reported in NMOSD cases.
- - Initially admitted for neurological symptoms, her diagnosis of NMOSD was confirmed through tests, and treatment improved her condition temporarily until she experienced severe fatigue and respiratory issues.
- - Following further examination, she was diagnosed with PRCA likely linked to NMOSD, and after receiving recombinant human erythropoietin, her symptoms improved over 1.5 months, highlighting the need for thorough evaluation of blood disorders in NMOSD patients.
Activation of nemo-like kinase in diamond blackfan anemia suppresses early erythropoiesis by preventing mitochondrial biogenesis.
J Biol Chem
August 2024
Division of Hematology/Oncology, Department of Pediatrics, Stanford University, Stanford, California, USA.
Diamond Blackfan Anemia (DBA) is a rare macrocytic red blood cell aplasia that usually presents within the first year of life. The vast majority of patients carry a mutation in one of approximately 20 genes that results in ribosomal insufficiency with the most significant clinical manifestations being anemia and a predisposition to cancers. Nemo-like Kinase (NLK) is hyperactivated in the erythroid progenitors of DBA patients and inhibition of this kinase improves erythropoiesis, but how NLK contributes to the pathogenesis of the disease is unknown.
View Article and Find Full Text PDFArticle Synopsis
- - The case report highlights a 48-year-old woman with chronic kidney disease who developed pure red cell aplasia (PRCA) due to anti-erythropoietin (EPO) antibodies after receiving EPO injections for anemia.
- - Following a severe drop in her hemoglobin levels, she was treated with desidustat, a new oral medication that improved her hemoglobin significantly while being less likely to induce an immune response.
- - This case emphasizes the importance of quick diagnosis and the potential of desidustat as a safer alternative for treating anemia in patients, showcasing advancements in treatment within the context of the first reported case in India.
Elderly Male With Epstein-Barr Virus (EBV)-Induced Pure Red Cell Aplasia.
Cureus
June 2024
Hematology and Oncology, Mayo Clinic, Jacksonville, USA.
Pure red cell aplasia (PRCA) is a rare hematologic disorder presenting with symptomatic normocytic anemia with preservation of other bone marrow cell lineages that may be acquired in adulthood due to malignancy, autoimmune disease, and infections. PRCA has been attributed to Epstein-Barr virus (EBV) in patients with underlying malignancy; however, we present a rare case of EBV-related PRCA in a previously healthy elderly male without an underlying malignancy who developed transfusion-dependent anemia that responded to glucocorticoids, rituximab, and intravenous immunoglobulins.
View Article and Find Full Text PDFRefractory pure red cell aplasia associated with T-cell large granular lymphocyte leukemia treated by ruxolitinib.
Ann Hematol
August 2024
Department of Hematology, Jiangsu Province Hospital, Key Laboratory of Hematology, Collaborative Innovation Center for Cancer Personalized Medicine, The First Affiliated Hospital, Nanjing Medical University, No. 300 Guangzhou Road, Nanjing, 210000, China.
Article Synopsis
- * T-cell large granular lymphocyte (T-LGL) leukemia is a common and challenging cause of secondary PRCA, which typically shows poor treatment responses compared to other causes.
- * A reported case successfully treated refractory PRCA associated with T-LGL leukemia using ruxolitinib, resulting in complete remission without significant side effects like neutropenia or thrombocytopenia, suggesting ruxolitinib as a promising option for difficult cases.
Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome.
Stem Cell Res
September 2024
Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN 38105, Unites States. Electronic address:
Article Synopsis
- - Diamond-Blackfan anemia syndrome (DBAS) is a genetic disorder affecting bone marrow, often seen in infants, leading to low red blood cell counts and growth issues in about half of those affected.
- - The condition results from a deficiency in one of 24 ribosomal protein genes, with mutations in RPS19 responsible for about 25% of cases.
- - Researchers created induced pluripotent stem cell (iPSC) lines from two patients with different RPS19 mutations and also developed isogenic lines by correcting the mutations using a gene-editing technique called Cas9-mediated homology directed repair.
Towards a Cure for Diamond-Blackfan Anemia: Views on Gene Therapy.
Cells
May 2024
Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i, 252 50 Vestec, Czech Republic.
Article Synopsis
- - Diamond-Blackfan anemia (DBA) is a rare genetic disorder caused by issues with the bone marrow's ability to produce red blood cells, resulting in severe anemia and physical abnormalities, primarily due to mutations in ribosomal protein genes like RPS19.
- - Current treatments include glucocorticosteroids, blood transfusions, and hematopoietic stem cell transplantation (HSCT), with HSCT being the only curative but challenging option due to donor and immunological issues.
- - Gene therapy, particularly through methods like lentiviral vectors and CRISPR/Cas9 technology, is being explored as a promising curative approach for DBA, potentially transforming treatment options for affected individuals.
Article Synopsis
- Diagnosing autoimmune diseases in elderly patients on dialysis is challenging due to overlapping symptoms with infections, illustrated by a case of a 79-year-old man who developed subacute polyarthritis and fever despite having multiple health issues.
- He was diagnosed with seronegative rheumatoid arthritis after ruling out infections, focusing on clinical signs and his improvement with steroid treatment, particularly prednisolone.
- This case highlights the need for thorough differential diagnosis and tailored treatment approaches for elderly, immunocompromised patients, while also emphasizing the importance of monitoring for potential drug side effects.
Good's Syndrome With Pure Red Cell Aplasia and Subclinical Myasthenia Gravis: A Case Report and Review of Literature.
Cureus
May 2024
Division of Hematology and Oncology, Department of Medicine, Kyoto Prefectural University of Medicine, Kyoto, JPN.
Article Synopsis
- - Good's syndrome is a rare condition that combines thymoma (a tumor of the thymus) and an immunoglobulin disorder, leading to various complications in patients.
- - This report describes a patient with Good's syndrome who also had pure red cell aplasia (PRCA) and subclinical myasthenia gravis, where treatment with cyclosporine A improved PRCA but did not recover hypoglobulinemia or reduce anti-AChR antibodies.
- - The literature review indicates that while cyclosporine A is effective for PRCA in Good's syndrome, it does not address hypoglobulinemia, suggesting different underlying mechanisms for these conditions, highlighting the need for further research.
Reduced toxicity conditioning for hematopoietic stem cell transplantation in children with Diamond-Blackfan anemia.
Haematologica
October 2024
Department of Bone Marrow Transplantation and Cellular Therapy, St Jude Children's Research Hospital, Memphis, TN, USA; Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN.
The impact of infused red blood cell volume on major and bidirectional ABO-mismatched bone marrow transplantation.
Cytotherapy
October 2024
Unidade de Terapia Transfusional, Serviço de Hemoterapia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Background Aims: ABO incompatibility does not hinder bone marrow transplantation (BMT), but it has been associated with worse outcomes and additional adverse events. This study aimed to verify the impact of incompatible red blood cells (iRBCs) in allogeneic BMT and to determine a safe number of iRBCs to be infused.
Methods: We compared ABO-incompatible (iABO) allogeneic BMT (n = 42) with ABO-compatible allogeneic BMT (n = 44) and evaluated the impact of the number of infused iRBCs on outcomes and adverse events.
Immuno-Hematologic Complexity of ABO-Incompatible Allogeneic HSC Transplantation.
Cells
May 2024
Transfusion Medicine and Stem Cells Unit, San Camillo Forlanini Hospital, Circonvallazione Gianicolense 87, 00152 Rome, Italy.
ABO incompatibility is not considered a contraindication for hematopoietic stem cell transplantation (HSCT). Approximately 30% of transplants from related donors and up to 50% of transplants from unrelated donors are ABO incompatible. Immuno-hematologic investigations allow to estimate donor/recipient ABO mismatch and anti-A/B isohemagglutinin (IHA) titration in the pre-HSCT phase.
View Article and Find Full Text PDFLentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.
JCI Insight
May 2024
Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain.
Article Synopsis
- This study introduces a promising approach for gene therapy in Diamond Blackfan anemia (DBA), focusing on patients with mutations in the RPS19 gene and demonstrating a safe and effective treatment method.
- Unlike Fanconi anemia, DBA patients have a healthy reserve of hematopoietic stem cells, making them suitable candidates for this therapy without significant complications.
- Two novel lentiviral vectors were developed to deliver RPS19, showing successful restoration of red blood cell development in lab experiments, along with confirming safety and potential long-term benefits in hematopoietic cell function.
STK10 mutations block erythropoiesis in acquired pure red cell aplasia via impairing ribosome biogenesis.
Ann Hematol
August 2024
Department of Hematology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.
Article Synopsis
- Acquired pure red cell aplasia (PRCA) is a type of anemia marked by the lack of erythroblasts, with unclear underlying mechanisms, particularly regarding gene mutations.
- A study identified thirty patients with acquired PRCA and revealed a potential link to the STK10 gene, noting that patients with STK10 mutations had lower mRNA levels and poor responses to treatment.
- The research showed that silencing STK10 impairs erythroid differentiation and activates the p53 signaling pathway, suggesting that disrupted ribosome biogenesis and p53 activation contribute to the anemia seen in acquired PRCA.
Thymic carcinoma presenting with overlap polyarthritis and myositis: A rare paraneoplastic syndrome in childhood.
Int J Rheum Dis
May 2024
Department of Pediatric Rheumatology, Gazi University Faculty of Medicine, Ankara, Turkey.
Thymic tumors are very rare neoplasms in children and account for less than 1% of mediastinal tumors in pediatric patients. One-third of the pediatric patients present with symptoms related to the compression of the tumor mass on the surrounding anatomic structures, and paraneoplastic syndromes such as myasthenia gravis, pure red cell aplasia, acquired hypogammaglobulinemia, and connective tissue disorders, which rarely occur in children with thymic tumors. Herein, we report a case of thymic carcinoma mimicking the symptoms of a connective tissue disease with symmetrical polyarthritis accompanying myositis, fever, weight loss, and malaise in a 15-year-old male patient.
View Article and Find Full Text PDFIntegrated proteogenomic analysis for inherited bone marrow failure syndrome.
Leukemia
June 2024
Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba, 292-0818, Japan.
Article Synopsis
- Recent advancements in data-independent acquisition proteomic analysis have allowed for the detailed study of over 10,000 proteins, focusing on inherited bone marrow failure syndromes (IBMFS).
- An integrated proteogenomic analysis identified distinct protein expression patterns in various syndromes like dyskeratosis congenita and Fanconi anemia, revealing significant downregulation in proteins tied to ribosomal pathways in specific clusters.
- Targeted proteomic analysis of 417 samples demonstrated reduced SBDS and ADH5 protein levels in patients with related conditions, suggesting that this approach could enhance diagnostic and screening methods for IBMFS where standard tests are inadequate.
Harnessing Single-Cell Technologies in the Search for New Therapies for Diamond-Blackfan Anemia Syndrome.
Exp Hematol
July 2024
MRC Molecular Haematology Unit, WIMM, University of Oxford, Oxford, United Kingdom; Department of Paediatrics, Children's Hospital and MHU, WIMM, Oxford University and John Radcliffe Hospital, Oxford, United Kingdom.
The emergence of multiomic single-cell technologies over the last decade has led to improved insights into both normal hematopoiesis and its perturbation in a variety of hematological disorders. Diamond-Blackfan anemia (DBA) syndrome is one such disorder where single-cell assays have helped to delineate the cellular and molecular defects underlying the disease. DBA is caused by heterozygous loss-of-function germline variants in genes encoding ribosomal proteins (RPs).
View Article and Find Full Text PDFUmbilical Cord Blood and UC-MSCs Combined with Low-Dose Immunosuppressant in the Treatment of Elderly Patients with Pure Red Cell Aplastic: A Case Series.
Curr Stem Cell Res Ther
May 2024
Department of Hematology, Shandong Provincial Third Hospital, Jinan, 250031, China.
Article Synopsis
- Cyclosporine (CsA) is the primary treatment for Pure Red Cell Aplasia (PRCA), but its high toxicity and side effects make it unsuitable for some elderly patients with multiple complications.
- Researchers explored using Allogeneic Stem Cell Transplantation (ASCT) with umbilical cord blood (UCB) and mesenchymal stem cells (UC-MSCs) as an alternative treatment.
- A case report showed that this combination, alongside low-dose CsA, effectively treated three elderly PRCA patients, allowing their blood tests to normalize and stabilizing their organ function after 12 months.*
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Lancet Haematol
May 2024
Pediatric Immunology and Hematology Department and CRMR aplasies médullaires, Robert Debré Hospital, Groupe Hospitalier Universitaire, Assistance Publique-Hôpitaux de Paris Nord, Université de Paris Cité, Paris, France.
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care.
View Article and Find Full Text PDFA riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report.
Front Pediatr
April 2024
Department of Hematology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.