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Distinctive and common features of moderate aplastic anaemia.

The therapy algorithm for severe aplastic anaemia (sAA) is established but moderate AA (mAA), which likely reflects a more diverse pathogenic mechanism, often represents a treatment/management conundrum. A cohort of AA patients (n = 325) was queried for those with non-severe disease using stringent criteria including bone marrow hypocellularity and chronic persistence of moderately depressed blood counts. As a result, we have identified and analyzed pathological and clinical features in 85 mAA patients. Progression to sAA and direct clonal evolution (paroxysmal nocturnal haemoglobinuria/acute

Rapid donor T-cell engraftment increases the risk of chronic graft-versus-host disease following salvage allogeneic peripheral blood hematopoietic cell transplantation for bone marrow failure syndromes.

The risk of graft-rejection after allogeneic hematopoietic cell transplantation using conventional cyclophosphamide-based conditioning is increased in patients with bone marrow failure syndromes (BMFS) who are heavily transfused and often HLA-alloimmunized. Fifty-six patients with BMFS underwent fludarabine-based reduced-intensity conditioning and allogeneic peripheral blood progenitor cell (PBPC) transplantation at a single institution. The conditioning regimen consisted of intravenous cyclophosphamide, fludarabine, and equine antithymocyte globulin. Graft-versus-host disease (GVHD) prophylax

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Patients with inherited bone marrow failure syndromes (IBMFS) have 'stress erythropoiesis', with anaemia, macrocytosis, increased fetal haemoglobin (Hb F) and high erythropoietin levels. In haemoglobinopathies, Hb F levels are regulated by 3 quantitative trait loci, HBS1L-MYB, BCL11A and Xmn1-HBG2. In our study of 97 patients with an IBMFS, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1-HBG2 [adjusted P = 0·04 for the total group, driven by Fanconi anaemia (P = 0·02) and dyskeratosis congenita (P = 0·09)]. Thus Hb

Delving into Molecular Pathways: Analyzing the Mechanisms of Action of Monoclonal Antibodies Integrated in IMGT/mAb-DB for Myasthenia Gravis.

BackgroundMyasthenia Gravis (MG) is a rare autoimmune disease presenting with auto-antibodies that affect the neuromuscular junction. In addition to symptomatic treatment options, novel therapeutics include monoclonal antibodies (mAbs). IMGT®, the international ImMunoGeneTics information system®, extends the characterization of therapeutic antibodies with a systematic description of their mechanisms of action (MOA) and makes them available through its database for mAbs and fusion proteins, IMGT/mAb-DB.MethodsUsing available literature data combined with amino acid sequence analyses from mAbs m

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… This C5 inhibitor has been evaluated for paroxysmal nocturnal hemoglobinuria (PNH), CD55-deficient protein-losing enteropathy, and CHAPLE disease [ 37 , 38 ]. … FDA report: Eculizumab (Soliris) for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Oncologist. 2008;13:993–1000. doi: 10.1634/theoncologist.2008-0086. 22. …

Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment.

Background-This review provides a comprehensive overview of rare anemias, emphasizing their hereditary and acquired causes, diagnostic advancements, and evolving treatment strategies. It outlines the significance of rare anemias within public health, historical challenges in recognition and treatment, and the role of European initiatives like ENERCA and EuroBloodNet in advancing care. Content-This document discusses diagnostic technologies like next-generation sequencing and the impact of artificial intelligence, alongside the promising avenues of gene therapy, targeted drug treatments, and st

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… Paroxysmal Nocturnal Hemoglobinuria (PNH) PNH treatment has evolved from intravenous anti-C5 eculizumab to newer complement inhibitors like ravulizumab and pegcetacoplan. … Relationship Between Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria Int. J. Hematol. 2002 75 117 122 10.1007/bf02982015 11939256 14. Colden M.A. Kumar S. Munkhbileg B. Babushok D.V. Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria Front. …

Design and development of a disease-specific quality of life tool for patients with aplastic anaemia and/or paroxysmal nocturnal haemoglobinuria (QLQ-AA/PNH)-a report on phase III.

To date, instruments to measure quality of life (QoL) specifically for patients with acquired aplastic anaemia (AA) and paroxysmal nocturnal haemoglobinuria (PNH) are lacking altogether. As a consequence, this issue is either underevaluated or alternatively, instruments originally designed for cancer patients are being used. We therefore started to systematically develop a AA/PNH-specific QoL (QLQ-AA/PNH) instrument in these ultra-rare diseases according to European Organisation for Research and Treatment of Cancer (EORTC) guidelines. While phases I and II of the process have previously been p

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… Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore) 2004;83(3):193–207. doi: 10.1097/01.md.0000126763.68170.46. 23. … The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006;355(12):1233–1243. doi: 10.1056/NEJMoa061648. 25. …

Beneath the surface in autoimmune hemolytic anemia: pathogenetic networks, therapeutic advancements and open questions.

In recent years, the pathophysiologic framework of autoimmune hemolytic anemias (AIHAs) has evolved considerably, extending beyond the simplistic paradigm of antibody-mediated red blood cell (RBC) destruction, which is now recognized as a downstream consequence of a broader immune dysregulation. AIHA is fundamentally orchestrated by a complex interplay between innate and adaptive immune components, including autoreactive B and T lymphocytes, macrophages, and the reticuloendothelial system. Central to disease pathogenesis are two interrelated mechanisms: clonal B-cell expansion with autoantibod

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… Hemolytic mechanisms in paroxysmal cold hemoglobinuria Paroxysmal cold hemoglobinuria (PCH) is a rare and challenging entity within the spectrum of AIHA, accounting for less than 5% of cases and with an estimated annual incidence of 0.04 per 100.00 individuals ( 22 ). … How the United States syphilis epidemic may portend a resurgence of an unusual hematologic condition: The connection between syphilis and paroxysmal cold hemoglobinuria . …

Global first-in-class drugs approved in 2023-2024: Breakthroughs and insights.

First-in-class (FIC) drugs are considered the main drivers of new drug discovery and have novel targets and mechanisms. The proportion of FIC drugs among new drugs provides fundamental guidance for both academic and pharmaceutical research. From a global perspective, 81 FIC drugs were approved in 2023 and 2024. Among them, small-molecule drugs account for a greater percentage (51.9%), illustrating the discovery of new chemical entities. Macromolecule drugs (48.1%), which mainly consist of antibody analogs, represent a growing trend as new biotechnology techniques have emerged. In terms of FIC

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… Oral Iptacopan Monotherapy in Paroxysmal Nocturnal Hemoglobinuria N. Engl. J. Med. 390 2024 994 1008 38477987 10.1056/NEJMoa2308695 23 Risitano A.M. Kulasekararaj A. Roeth A. … Factor B inhibitor iptacopan for the treatment of paroxysmal nocturnal hemoglobinuria Blood Rev. 66 2024 101210 10.1016/j.blre.2024.101210 38811284 26 Risitano A.M. Frieri C. Urciuoli E. …

Immune status of patients with inherited bone marrow failure syndromes.

Immune function abnormalities have been reported in patients with Fanconi anemia (FA), dyskeratosis congenita (DC) and, rarely, in Shwachman-Diamond syndrome (SDS), and Diamond-Blackfan anemia (DBA), but large systematic studies are lacking. We assessed immunological parameters in 118 patients with these syndromes and 202 unaffected relatives. We compared the results in patients with reference values, and with values in relatives after adjusting for age, sex, corticosteroid treatment, and severe bone marrow failure (BMF). Adult patients (≥18 years) with FA had significantly lower immunoglobuli

NKG2D-mediated immunity underlying paroxysmal nocturnal haemoglobinuria and related bone marrow failure syndromes.

It is considered that a similar immune mechanism acts in the pathogenesis of bone marrow (BM) failure in paroxysmal nocturnal haemoglobinuria (PNH) and its related disorders, such as aplastic anaemia (AA) and myelodysplastic syndromes (MDS). However, the molecular events in immune-mediated marrow injury have not been elucidated. We recently reported an abnormal expression of stress-inducible NKG2D (natural-killer group 2, member D) ligands, such as ULBP (UL16-binding protein) and MICA/B (major histocompatibility complex class I chain-related molecules A/B), on granulocytes in some PNH patients

Autoimmune Hemolytic Anemias: Challenges in Diagnosis and Therapy.

BackgroundAutoimmune hemolytic anemia (AIHA) is a rare disease due to increased destruction of erythrocytes by autoantibodies, with or without complement activation.SummaryAIHA is usually classified in warm AIHA (wAIHA) and cold agglutinin disease (CAD), based on isotype and thermal amplitude of the autoantibody. The direct antiglobulin test (DAT) or Coombs test is the cornerstone of AIHA diagnosis, as it is positive with anti-IgG in wAIHA, and with anti-C3d/IgM antisera plus high titer cold agglutinins in CAD. Therapy is quite different, as steroids and rituximab are effective in the former,

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… More rare forms are the mixed forms (wAIHA plus CAD), the atypical ones (IgA or warm IgM driven, and DAT negative) and the ultra-rare paroxysmal cold hemoglobinuria [ 1 ]. … Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician’s guide. Ther Adv Hematol. 2017;8(3):119–26. 34. Connelly-Smith L, Alquist CR, Aqui NA, Hofmann JC, Klingel R, Onwuemene OA, et al. …

The choice of new treatments in autoimmune hemolytic anemia: how to pick from the basket?

Autoimmune hemolytic anemia (AIHA) is defined by increased erythrocyte turnover mediated by autoimmune mechanisms. While corticosteroids remain first-line therapy in most cases of warm-antibody AIHA, cold agglutinin disease is treated by targeting the underlying clonal B-cell proliferation or the classical complement activation pathway. Several new established or investigational drugs and treatment regimens have appeared during the last 1-2 decades, resulting in an improvement of therapy options but also raising challenges on how to select the best treatment in individual patients. In severe w

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… Probably, his patient suffered from paroxysmal cold hemoglobinuria (PCH). Karl Landsteiner discovered cold agglutinins in 1903 ( 10 ). … Paroxysmal cold hemoglobinuria successfully treated with complement inhibition. Blood Adv (2019) 3(22):3575–8. doi: 10.1182/bloodadvances.2019000897 97. Mayer B, Yurek S, Kiesewetter H, Salama A. …

Special Education: Aplastic Anemia.

WHAT IS HYPOPLASTIC ANEMIA? Aplastic anemia is a hematological disease characterized by pancytopenia and bone marrow hypoplasia. Acquired ca … ia, and long-term survivors in particular, are at increased risk of developing paroxysmal nocturnal hemoglobinuria (PNH), myelodysplastic syndrome (MDS), or acute myelocytic leukemia. This suggests that, in at least some of these patients, the hematopoietic stem cells themselves are abnormal. It also suggests that in some of these patients the blood cells are cl …

Acute portal vein thrombosis in a 59-year-old male with JAK2 V617F mutation.

Portal vein thrombosis is an uncommon finding that typically arises in the context of cirrhosis. In the acute setting, it may present with abdominal pain, portal hypertension, ascites, gastrointestinal bleeding, or mesenteric ischemia. Local risk factors that predispose its formation include: cirrhosis, hepatocellular carcinoma, pancreatitis, and intraabdominal infection. Systemic factors, including hypercoagulable states and sepsis, also pose an increased risk. JAK2 V617F positive myeloproliferative disorders are associated with systemic prothrombotic states and are a less frequently identifi

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… enhancement, peripancreatic stranding [15] | Incidence: 23% in acute pancreatitis, 57% in pancreatic necrosis [2] | - Hypercoagulable states (factor V leiden, protein C deficiency, protein S deficiency, antithrombin III deficiency, prothrombin mutation, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria … There was no evidence of paroxysmal nocturnal hemoglobinuria with flow cytometry. Serum CA19-9 levels were also tested and found to be normal. The patient remained inpatient for 7 days and was discharged on enoxaparin to be continued for 6 months. …

Исследования " горячих точек " и новые темы для лечения расстройства спектра нейромиелита: Отчёты по библиометрическому анализу.

БИХЕКТ: Эффективное лечение расстройства спектра нейромиелита (NMOSD) может значительно снизить уровень инвалидности и смертности среди пациентов. В научных кругах все большее значение приобретают исследования по лечению НМОУР. Цель этого исследования состоит в том, чтобы отразить эволюцию и интеграцию методов лечения НМОУР в прошлом. 20 Годы, выявление основных участников в этой области, уточнение нынешних < < горячих точек > > для исследований и изучение новых тем, которые могут определять направления будущих исследований. МЕТОД: Изделия в этой области 2004 в адрес 2023 был взят

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… Initially for rheumatic diseases, it was first approved in 2007 for paroxysmal nocturnal hemoglobinuria and later for myasthenia gravis. … It is currently approved for treating myasthenia gravis and paroxysmal nocturnal hemoglobinuria, with only the European Medicines Agency approving its use for adult patients with AQP4-IgG positivity. [ 29 ] 4.4. …

Loss of c-Kit and bone marrow failure upon conditional removal of the GATA-2 C-terminal zinc finger domain in adult mice.

Heterozygous mutations in the transcriptional regulator GATA-2 associate with multilineage immunodeficiency, myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML). The majority of these mutations localize in the zinc finger (ZnF) domains, which mediate GATA-2 DNA binding. Deregulated hematopoiesis with GATA-2 mutation frequently develops in adulthood, yet GATA-2 function in the bone marrow remains unresolved. To investigate this, we conditionally deleted the GATA-2 C-terminal ZnF (C-ZnF) coding sequences in adult mice. Upon Gata2 C-ZnF deletion, we observed rapid peripheral cytopeni

Experience of life quality from patients with aplastic anemia: a descriptive qualitative study.

BackgroundDespite the increasing incidence of aplastic anemia in China, few studies have explored its effect on the patients' quality of life from the perspective of these patients. In fact, patients with aplastic disorder live with the disease for a long time, and need to face a variety of difficult realities, including multiple disease symptoms and drug side effects, heavy burden of medical costs, difficulties in social reintegration, and negative emotional distress. Therefore, this study used descriptive qualitative research to explore the direct and rich quality-of-life experiences of pati

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… For example, Patient-reported Outcome Questionnaire for Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria (PRO-AA/PNH) can be used to assess patients’ quality of life [ 18 ]. … Development of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II. Ann Hematol. 2017;96(2):171–81. doi: 10.1007/s00277-016-2867-8. 17. …

COVID-19 outcomes in patients with hematologic disease.

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… M male, F female, BMI body mass index (kg/m 2 ), DLBLC diffuse large B-cell lymphoma, PNH paroxysmal nocturnal hemoglobinuria, ALL acute lymphoblastic leukemia, MDS myelodysplastic syndrome, LGL large granular lymphocyte, CLL chronic lymphoid leukemia, DXM dexamethasone, allo-HSCT allogeneic hematopoietic … One patient had paroxysmal nocturnal hemoglobinuria. Patients received a median of 1 (range, 0-6) line of treatment. Fourteen patients (56%) were being treated for their underlying disease at the time of COVID-19 diagnosis, with 10 (40%) receiving corticosteroids. …

Immunosuppressive and Non-Immunosuppressive Drugs for Heart Xenotransplantation in Humans: Is Europe Ready?

Xenotransplantation is becoming an emerging field of interest for the treatment of end-stage heart disease. In fact, the shortage of human heart donors in European countries requires the increasing investigation of alternative strategies such as heart xenotransplantation. Among different limitations in this peculiar field, the experimental pharmacological management of patients who undergo heart xenotransplantation is primarily narrowed by the indications for which these drugs have been previously authorized by international medicines agencies. In fact, many of these medications have been neve

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… Primary indication for eculizumab use in U.S. is paroxysmal nocturnal hemoglobinuria (PNH) to reduce hemolysis, atypical hemolytic uremic syndrome to inhibit complement‐mediated thrombotic microangiopathy, and neuromyelitis optica spectrum disorder. … , atypical hemolytic uremic syndrome, generalized myasthenia gravis in adults, neuromyelitis optica spectrum disorder | IV | None | None Pegcetacoplan (Aspaveli) | FDA 2021 EMA 2021 | Treatment of paroxysmal nocturnal hemoglobinuria with anemia in adults | SC | None | None Sutimlimab (Enjaymo) | FDA …