Acta Haematologica

The differential diagnosis of erythrocytosis is complex, involving a tailored algorithm. Congenital causes are rare and such patients commonly face a long journey looking for diagnosis. This diagnosis requires expertise and accessibility to modern diagnostic tools. We present the case of a young Swiss man with long-standing erythrocytosis of unknown origin and his family. The patient had an episode of malaise as he went skiing above 2,000m altitude. In the blood gas analysis, the p50 was low (16 mmHg) and erythropoietin was normal...

Introduction Waldenström macroglobulinemia (WM) represents a subset of lymphoplasmacytic lymphoma (LPL) with the immunoglobulin (Ig)M paraprotein. MYD88 L265P and CXCR4 mutations are common mutations in WM patients, and mutations in ARID1A and KMT2D (MLL2) have also been reported. However, little information has been accumulated on genetic changes in LPL with other paraproteins like IgG. Methods We therefore aimed to evaluate genetic differences between WM and LPL with non-IgM paraprotein (non-IgM-type LPL) using targeted next-generation sequencing (NGS) in 20 Japanese patients (10 with WM, 10 with non-IgM-type LPL)...

Introduction Immune thrombocytopenia (ITP) is an autoimmune disease characterized by thrombocytopenia. Herein, we sought to identify potential immune-related therapeutic targets in ITP. Methods The differentially expressed genes (DEGs) between ITP patients and controls in GSE43177 and PRJNA299534 were analyzed. The intersections of the two DEG groups were screened as common genes, and enrichment analysis was performed. Additionally, differential analysis of immune cell levels between ITP and controls was performed...

Successful management of surgery in severe coagulation disorders depends on adequate replacement of the deficient factors from intervention until wound healing. Extended half-life (EHL) recombinant factor IX (rFIX) has been increasingly used in hemophilia B (HB) patients. Monitoring of blood levels of EHL rFIX allows to obtain pharmacokinetic (PK) parameters in order to optimize and personalize therapeutic scheme. We describe a case of a young male with severe HB who successfully underwent aortic valve re-pair...

The gene encoding for transcription factor ETV6 presents recurrent lesions in hematologic neoplasms, most notably the ETV6-RUNX1 rearrangement in childhood B-ALL. The role of ETV6 for normal hematopoiesis is unknown, but loss of its function probably participates in oncogenic procedures. In myeloid neoplasms, ETV6-locus (12p13) deletions are rare but recurrent; ETV6 translocations are even rarer, but those reported seem to have phenotype-defining consequences. We herein describe the genetic and hematologic profile of myeloid neoplasms with ETV6 deletions (10 cases), or translocations (4 cases) diagnosed in the last ten years in our institution...

Introduction Genetic landscape, disease characteristics and clinical outcomes of young adults with myeloproliferative neoplasms (MPNs) were reported. However, data on patient-reported outcomes (PROs) in young adults with MPNs were rare. Methods We conducted a multicenter, cross-sectional study to compared the PROs in respondents with thrombocythemia (ET), polycythemia vera (PV) and myelofibrosis (MF) by age at survey, including the young group (18-40 years), middle-aged group (41-60 years), and elderly group (> 60 years)...

Acquired von Willebrand syndrome is a rare entity with approximately 700 cases described in the literature. Many etiologies are responsible for this condition, mainly lymphoproliferative and myeloproliferative syndromes, as well as cardiac diseases. Several mechanisms have been involved depending on the etiology. Viral infections are an extremely rare cause, with one case reported after an EBV infection. In this case report we describe the very likely association between SARS-CoV2 infection and the development of a time-limited acquired von Willebrand syndrome...

Large single mtDNA (mitochondrial DNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [1-2]. The common CPEO clinical manifestations are ptosis and ophthalmoplegia. More variable phenotypic manifestations of CPEO (CPEO plus) include involvement of the peripheral nervous system and myopathy...

INTRODUCTION: In clinical diagnosis and treatment, we found that PLT counts failed to increase significantly or even decreased progressively in some patients after receiving PLT transfusion. OBJECTIVE: The aim of this study was to observe the therapeutic effect of platelet (PLT) transfusion and analyze influencing factors for the sake. METHODS: Included in this study were patients who received PLT transfusion in our hospital. Patients' sex, age, height, weight, PLT transfusion status, and 20-24-h PLT count before and after PLT transfusion were collected to calculate the PLT corrected count increment (CCI) values before and after PLT transfusion...

Erdheim-Chester disease (ECD) is a rare clonal histiocytic process that is characterized by a foamy (xanthomatous) proliferation often associated with Touton giant cells. The diagnosis is often challenging and not exclusively a histologic diagnosis, as it requires correlation with unique clinical, radiographic and recently described molecular findings. Activating mutations involving the MAPK pathway including BRAF, ARAF, N/KRAS and MEK are recurrent in the disease. However, it is increasingly being described that mutations associated with clonal hematopoiesis are also found in bone marrow specimens of patients with Erdheim-Chester disease (ECD), as well as higher frequency of overt concomitant myeloid malignancy including acute myeloid leukemia, myeloproliferative neoplasms, myelodysplastic syndromes, and mixed myeloproliferative neoplasms/myelodysplastic syndromes...

INTRODUCTION: Recent studies have suggested that CD300A was an oncogene in acute myeloid leukemia (AML) development. However, the clinical relevance and biological insight into CD300A expression in AML are still not well understood. The present study aimed to examine the expression characteristics of CD300A in AML and confirmed its clinical significance for AML. METHODS: Quantification of the CD300A transcript was performed in 119 AML patients by real-time quantitative PCR in bone marrow blasts...

INTRODUCTION: We aim to assess the natural annual trends in the levels of haemoglobin, haematocrit and mean corpuscular volume (MCV) in a population of adults, together with the influence of different clinical parameters on these trends. METHODS: A retrospective analysis was carried out on data from a large cohort of subjects attending a screening centre in Israel. For each subject, the yearly average change of haemoglobin, haematocrit and MCV was calculated. Statistical analysis was performed for the whole cohort and for different subgroups...

INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a rare immune disorder with rapid progression and high mortality. There have been few large cohort studies comparision of pediatric and adult HLH until now. This study was designed to explore the disparity of clinical presentations and evaluate the prognosis in pediatric and adult HLH patients. METHODS: Totally 525 newly diagnosed HLH patients were included and divided into 4 groups according to age: ＜6, 6-18, 18-60 and＞60 years (geriatric patients)...

INTRODUCTION: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the best curative option for high-risk myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Unfortunately, it is still associated with a significant risk of relapse due to mechanisms of escape from the control of alloreactive T cells. Repetitive adjuvant donor lymphocyte infusions (DLI), termed prophylactic DLI (proDLI), as an effective strategy in preventing relapse is still debated. METHODS: We performed a retrospective multicenter study to evaluate the efficacy of proDLI in allografted AML and MDS...

The objective of this study was to explore the molecular defects in two Chinese families with hypodysfibrinogenemia. The coagulation method and immunoturbidimetric method were used to detect plasma fibrinogen activity and plasma fibrinogen antigen. The fibrinogen genes were amplified by PCR and suspected mutations were confirmed by reverse sequencing. Bioinformatics and model analysis were used to study the conservatism and harm of the mutations. Study showed that the Fg:C and Fg:Ag of the probands of the two families were reduced respectively to 0...

INTRODUCTION: To conduct a network meta-analysis to assess the efficacy and incidence of treatment related adverse events (TRAEs) of eltrombopag, romiplostim, avatrombopag, recombinant human thrombopoietin (rhTPO) and hetrombopag for adult immune thrombocytopenia (ITP). METHODS: Randomized controlled trails (RCTs) of the five therapies from inception to June 1, 2022 were included. The efficacy outcome was the rate of platelet response, defined as the achievement of platelet counts above 50 x 109/L...

INTRODUCTION: Mutations in the F11 gene can cause factor Ⅺ (FⅪ) deficiency, leading to abnormal coagulation activity and injury-related bleeding tendency. Therefore, identifying F11 gene mutations and studying the molecular basis will help us understand the pathogenesis of FⅪ deficiency. METHODS: Coagulation tests and gene sequencing analysis of all members were performed. FⅪ wild-type and mutant expression plasmids were constructed and transfected into HEK293FT cells...

BACKGROUND: Management of anticoagulant therapy in COVID-19 patients is a critical role. Low Molecular Weight Heparin (LMWH) thromboprophylaxis is already recommended and anti-Factor Xa (anti-FXa) monitoring has been used to titrate LMWH doses. METHODS: Through a cross-sectional study, we evaluated anti-FXa activity in patients admitted to ICU, receiving intermediate dose (30, 40, 50mg, subcutaneously (SC), twice daily) or therapeutic dose (1 mg/kg, SC, Q12h) of enoxaparin to find whether the patients of these two groups achieve anti-FXa levels in the accepted thromboprophylaxis range...

The association of glomerulonephritis and malignant hematological disease is uncommon, but well known in chronic leukemias, lymphomas, and monoclonal gammopathies. However, only a few cases of glomerulonephritis and acute myeloid leukemia has been reported in the literature. We describe the first case of a genetically diagnosed acute promyelocytic leukemia presenting with nephrotic range proteinuria that resolved with induction therapy with ATRA and ATO and performed a comprehensive review of the literature...

BACKGROUND: Severe COVID-19 illness can lead to thrombotic complications, organ failure, and death. Antithrombin (AT) regulates thromboinflammation and is a key component of chemical thromboprophylaxis. Our goal was to examine the link between AT activity and responsiveness to thromboprophylaxis, markers of hypercoagulability, and inflammation among severe COVID-19 patients. METHODS: A single-center, prospective observational study enrolling SARS-CoV-2 positive patients admitted to the intensive care unit on prophylactic enoxaparin...