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Diagnosis and Management of Blood Diseases

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 30 July 2024 | Viewed by 24462

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Special Issue Editors

Dr. Leonard A. Valentino

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Guest Editor

Department of Pediatrics, Hemophilia and Thrombophilia Center, RUSH University Medical Center, 1725 W Harrison Street, Chicago, IL, USA
Interests: immune thrombocytopenia purpura; hemophilia; von Willebrand disease; rare bleeding disorders; sickle cell disease; hereditary hemorrhagic telangiectasia

Dr. Michael Recht

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Guest Editor

1. Department of Pediatrics, Center for Bleeding and Clotting Disorders, Yale School of Medicine, New Haven, CT, USA
2. National Bleeding Disorders Foundation, New York, NY, USA
Interests: bleeding disorders; pediatric hematology/oncology; hemophilia; thrombosis; data collection and curation; databases

Special Issue Information

Dear Colleagues,

Non-malignant hematologic conditions are receiving more attention from academic and biotechnology organizations as their underlying molecular mechanisms are elucidated, leading to advanced-therapy medicinal products (ATMPs) and individualized medicines with curative intent. This Special Issue of the Journal of Clinical Medicine will focus on innovations in the diagnosis, treatment, and ultimately prevention of non-malignant hematological conditions. We welcome the submission of original research and review articles presenting results in the above-mentioned research fields, as well as papers discussing findings of pre-clinical studies and clinical trials.

Potential topics include (but are not limited to) the following:

Immune thrombocytopenia purpura;
hemophilia;
von Willebrand Disease;
Rare bleeding disorders;
Sickle Cell Disease;
hereditary hemorrhagic telangiectasia；
Thrombotic disorders；
Quality improvement in beneign hematology；
Database soultions to monitor and track people with these disorders

Dr. Leonard A. Valentino
Dr. Michael Recht
Guest Editors

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Keywords

Immune thrombocytopenia purpura
hemophilia
von Willebrand Disease
Rare bleeding disorders
Sickle Cell Disease
hereditary hemorrhagic telangiectasia
Thrombotic disorders
Quality improvement in benign hematology
Database solutions to monitor and track people with these disorders

Published Papers (11 papers)

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Research

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19 pages, 2350 KiB

Open AccessArticle

Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice

by Ángel Bernardo, Alberto Caro, Daniel Martínez-Carballeira, José Ramón Corte, Sonia Vázquez, Carmen Palomo-Antequera, Alfredo Andreu, Álvaro Fernández-Pardo, Julia Oto, Laura Gutiérrez, Inmaculada Soto and Pilar Medina

J. Clin. Med. 2022, 11(12), 3345; https://doi.org/10.3390/jcm11123345 - 10 Jun 2022

Cited by 2 | Viewed by 1807

Abstract

Hemophilia A (HA) is a rare bleeding disorder caused by factor VIII (FVIII) deficiency due to various genetic mutations in the F8 gene. The disease severity inversely correlates with the plasma levels of functional FVIII. The treatment of HA patients is based on FVIII replacement therapy, either following a prophylactic or on-demand regime, depending on the severity of the disease at diagnosis and the patient’s clinical manifestations. The hemorrhagic manifestations are widely variable amongst HA patients, who may require monitoring and treatment re-adjustment to minimize bleeding symptoms. Notably, laboratory monitoring of the FVIII activity is difficult due to a lack of sensitivity to various FVIII-related molecules, including non-factor replacement therapies. Hence, patient management is determined mainly based on clinical manifestations and patient–clinician history. Our goal was to validate the ST Genesia^® automated thrombin generation analyzer to quantify the relative hemostatic status in HA patients. We recruited a cohort of HA patients from the Principality of Asturias (Spain), following treatment and at a stable non-bleeding phase. The entire cohort (57 patients) had been comprehensively studied at diagnosis, including FVIII and VWF activity assays and F8 genetic screening, and then clinically monitored until the Thrombin Generation Test (TGT) was performed. All patients were recruited prior to treatment administration, at the maximum time-window following the previous dose. Interestingly, the severe/moderate patients had a similar TGT compared to the mild patients, reflecting the non-bleeding phase of our patient cohort, regardless of the initial diagnosis (i.e., the severity of the disease), treatment regime, and FVIII activity measured at the time of the TGT. Thus, TGT parameters, especially the peak height (Peak), may reflect the actual hemostatic status of a patient more accurately compared to FVIII activity assays, which may be compromised by non-factor replacement therapies. Furthermore, our data supports the utilization of combined TGT variables, together with the severity of patient symptoms, along with the F8 mutation type to augment the prognostic capacity of TGT. The results from this observational study suggest that TGT parameters measured with ST Genesia^® may represent a suitable tool to monitor the hemostatic status of patients requiring a closer follow-up and a tailored therapeutic adjustment, including other hemophilia subtypes or bleeding disorders. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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19 pages, 1021 KiB

Open AccessArticle

Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia

by Jan Kulis, Łukasz Wawrowski, Łukasz Sędek, Łukasz Wróbel, Łukasz Słota, Vincent H. J. van der Velden, Tomasz Szczepański and Marek Sikora

J. Clin. Med. 2022, 11(9), 2281; https://doi.org/10.3390/jcm11092281 - 19 Apr 2022

Cited by 7 | Viewed by 1922

Abstract

Flow cytometry technique (FC) is a standard diagnostic tool for diagnostics of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) assessing the immunophenotype of blast cells. BCP-ALL is often associated with underlying genetic aberrations, that have evidenced prognostic significance and can impact the disease outcome. Since the determination of patient prognosis is already important at the initial phase of BCP-ALL diagnostics, we aimed to reveal specific genetic aberrations by finding specific multiple antigen expression patterns with FC immunophenotyping. The FC immunophenotype data were analysed using machine learning methods (gradient boosting, decision trees, classification rules). The obtained results were verified with the use of repeated cross-validation. The t(12;21)/ETV6-RUNX1 aberration occurs more often when blasts present high expression of CD10, CD38, low CD34, CD45 and specific low expression of CD81. The t(v;11q23)/KMT2A is associated with positive NG2 expression and low CD10, CD34, TdT and CD24. Hyperdiploidy is associated with CD123, CD66c and CD34 expression on blast cells. In turn, high expression of CD81, low expression of CD45, CD22 and lack of CD123 and NG2 indicates that none of the studied aberrations is present. Detecting aberrations in pediatric BCP-ALL, based on the expression of multiple markers, can be done with decent efficiency. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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13 pages, 432 KiB

Open AccessArticle

Prescription of Blood Lymphocyte Immunophenotyping in the Diagnosis of Lymphoid Neoplasms in Older Adults

by Jérémie Vovelle, Céline Row, Fabrice Larosa, Julien Guy, Anca-Maria Mihai, Marc Maynadié, Jérémy Barben and Patrick Manckoundia

J. Clin. Med. 2022, 11(6), 1748; https://doi.org/10.3390/jcm11061748 - 21 Mar 2022

Cited by 1 | Viewed by 1585

Abstract

Lymphoid neoplasms are a heterogeneous group of lymphoid neoplastic diseases with multiple presentations, and varying prognoses. They are especially frequent in older patients (OPs) and the atypism of this frail elderly population can make the diagnostic process even more difficult. Blood lymphocyte immunophenotyping (BLI) is essential in rapid noninvasive diagnosis orientation and guides complementary investigations. To our knowledge, BLI prescription has never been evaluated in OPs. We hypothesized that, when there is a suspicion of lymphoid neoplasm in the geriatric population, a BLI is performed in view of various clinical or biological abnormalities. This study aimed to: (1) describe the characteristics of hospitalized OPs having undergone BLI for suspected lymphoid neoplasm, (2) identify the causes leading to BLI prescription, and (3) identify the most profitable criteria for BLI prescription. This was a descriptive retrospective study on 151 OPs aged ≥75 years who underwent BLI over a 2-year period. Regarding BLI prescriptions, eight had lymphocytosis, constituting the “lymphocytosis group” (LG+), while the 143 others had BLI prescribed for reasons other than lymphocytosis (LG−), mainly general weakness and anemia. In the LG−, we compared OPs with positive and negative BLI results. The criteria found to be profitable for BLI prescription were lymphadenopathy, splenomegaly, lymphocytosis, and thrombocytopenia. BLI identified circulating lymphoid neoplasms (positive BLI) in 21/151 OPs, mainly marginal zone lymphoma and chronic lymphocytic leukemia. In polymorbid OPs, as per our study population, the diagnostic and therapeutic complexity explained in part the sole use of indirect and minimally invasive diagnostic techniques such as BLI. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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14 pages, 1624 KiB

Open AccessArticle

Pretreatment Serum Levels of IL-1 Receptor Antagonist and IL-4 Are Predictors of Overall Survival in Multiple Myeloma Patients Treated with Bortezomib

by Damian Mikulski, Paweł Robak, Ewelina Perdas, Edyta Węgłowska, Aleksandra Łosiewicz, Izabela Dróżdż, Dariusz Jarych, Małgorzata Misiewicz, Janusz Szemraj, Wojciech Fendler and Tadeusz Robak

J. Clin. Med. 2022, 11(1), 112; https://doi.org/10.3390/jcm11010112 - 26 Dec 2021

Cited by 2 | Viewed by 3175

Abstract

Multiple myeloma (MM) is characterized by the malignant proliferation of monoclonal plasma cells in the bone marrow with an elevation in monoclonal paraprotein, renal impairment, hypercalcemia, lytic bony lesions, and anemia. Immune cells and associated cytokines play a significant role in MM growth, progression, and dissemination. While some cytokines and their clinical significance are well described in MM biology, others remain relatively unknown. The present study examines the influence on progression-free survival (PFS) and overall survival (OS) by the serum levels of 27 selected cytokines in 61 newly diagnosed MM patients receiving first-line therapy with bortezomib-based regimens. The measurements were performed using a Bio-Rad Bio-Plex Pro Human Cytokine 27-Plex Assay and a MAGPIX Multiplex Reader, based on the Bio-Plex^® 200 System (Bio-Rad). The following levels were determined: IL-1β, IL-1Ra, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-9, IL-10, IL-12, IL-13, IL-15, IL-17, Eotaxin, FGF, G-CSF, GM-CSF, IFN-γ, IP-10, MCP-1, MIP-1α, MIP-1β, PDGF-BB, RANTES, TNF-α, and VEGF. Most patients received a VCD chemotherapy regimen (bortezomib, cyclophosphamide, and dexamethasone). In the final multivariate model, IL-13 cytokine level (HR 0.1411, 95% CI: 0.0240–0.8291, p = 0.0302) and ASCT (HR 0.3722, 95% CI: 0.1826–0.7585, p = 0.0065) significantly impacted PFS. Furthermore, ASCT (HR 0.142, 95% CI: 0.046–0.438, p = 0.0007), presence of bone disease at diagnosis (HR 3.826, 95% CI: 1.471–9.949, p = 0.0059), and two cytokine levels—IL-1Ra (HR 1.017, 95% CI: 1.004–1.030, p = 0.0091) and IL-4 (HR 0.161, 95% CI: 0.037–0.698, p = 0.0147)—were independent predictors of OS. Three clusters of MM patients were identified with different cytokine profiles. In conclusion, serum pretreatment levels of IL-13 and IL-4 are predictors of better PFS and OS, respectively, whereas IL-1Ra pretreatment levels negatively impact OS in MM patients treated with bortezomib-based chemotherapy. Cytokine signature profile may have a potential influence on the outcome of patients treated with bortezomib. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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13 pages, 691 KiB

Open AccessArticle

Is It Possible to Predict Clonal Thrombocytosis in Triple-Negative Patients with Isolated Thrombocytosis Based Only on Clinical or Blood Findings?

by Tanja Belčič Mikič, Bor Vratanar, Tadej Pajič, Saša Anžej Doma, Nataša Debeljak, Irena Preložnik Zupan, Matjaž Sever and Samo Zver

J. Clin. Med. 2021, 10(24), 5803; https://doi.org/10.3390/jcm10245803 - 11 Dec 2021

Viewed by 2114

Abstract

JAK2, MPL, and CALR mutations define clonal thrombocytosis in about 90% of patients with sustained isolated thrombocytosis. In the remainder of patients (triple-negative patients) diagnosing clonal thrombocytosis is especially difficult due to the different underlying conditions and possible inconclusive bone marrow biopsy results. The ability to predict patients with sustained isolated thrombocytosis with a potential clonal origin has a prognostic value and warrants further examination. The aim of our study was to define a non-invasive clinical or blood parameter that could help predict clonal thrombocytosis in triple-negative patients. We studied 237 JAK2 V617-negative patients who were diagnosed with isolated thrombocytosis and referred to the haematology service. Sixteen routine clinical and blood parameters were included in the logistic regression model which was used to predict the type of thrombocytosis (reactive/clonal). Platelet count and lactate dehydrogenase (LDH) were the only statistically significant predictors of clonal thrombocytosis. The platelet count threshold for the most accurate prediction of clonal or reactive thrombocytosis was 449 × 10⁹/L. Other tested clinical and blood parameters were not statistically significant predictors of clonal thrombocytosis. The level of LDH was significantly higher in CALR-positive patients compared to CALR-negative patients. We did not identify any new clinical or blood parameters that could distinguish clonal from reactive thrombocytosis. When diagnosing clonal thrombocytosis triple-negative patients are most likely to be misdiagnosed. Treatment in patients with suspected triple negative clonal thrombocytosis should not be delayed if cardiovascular risk factors or pregnancy coexist, even in the absence of firm diagnostic criteria. In those cases the approach “better treat more than less” should be followed. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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Review

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16 pages, 1855 KiB

Open AccessReview

Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications

by Silvia Linari and Giancarlo Castaman

J. Clin. Med. 2022, 11(23), 6920; https://doi.org/10.3390/jcm11236920 - 24 Nov 2022

Cited by 1 | Viewed by 2202

Abstract

Gaucher disease (GD) is a rare inherited lysosomal metabolism disorder, characterized by an accumulation into lysosomes of reticuloendothelial cells, especially in the bone marrow, spleen, and liver of β-glucosylceramide and glucosyl sphingosine, which is its deacylated product. Impaired storage is responsible for a chronic inflammatory state at the sites of accumulation and together represents the pathophysiological cause of GD. GD is a progressive, multi-organ chronic disorder. Type 1 GD is the most prevalent form, with heterogeneous multisystem involvement and different severity of symptoms at any age. Hematological involvement is consistent, and a bleeding tendency is frequent, particularly at diagnosis. Several coagulation and primary hemostasis abnormalities are observed in GD. Bleeding manifestations are rarely severe and usually mucocutaneous. Post-operative, delivery, and post-partum hemorrhages are also common. Thrombocytopenia, platelet function defects, and clotting abnormalities, alone or variably associated, contribute to increase the risk of bleeding in GD. Enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) are the two specific available treatments effective in improving typical hematological symptoms and abnormalities, including those of hemostasis. However, the use of medication to potentiate hemostasis may be also useful in defined clinical situations: recent starting of ERT/SRT, surgery, delivery, and life-threatening bleeding. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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19 pages, 2137 KiB

Open AccessReview

Measuring Factor XIII Inhibitors in Patients with Factor XIII Deficiency: A Case Report and Systematic Review of Current Practices in Japan

by Shiho Amano, Kohei Oka, Yutaka Sato, Chiaki Sano and Ryuichi Ohta

J. Clin. Med. 2022, 11(6), 1699; https://doi.org/10.3390/jcm11061699 - 18 Mar 2022

Cited by 2 | Viewed by 2398

Abstract

Factor XIII (FXIII) deficiency is a rare but serious coagulopathy. FXIII is critical in blood coagulation, and FXIII deficiencies can lead to uncontrolled or spontaneous bleeding. FXIII deficiencies can be congenital or acquired; acquired FXIII deficiency can be categorized as autoimmune and non-autoimmune. Immunological tests to measure FXIII inhibitors are required to diagnose acquired FXIII deficiency; however, appropriate test facilities are limited, which increases the turnaround time of these tests. In the case of critical bleeding, delayed test results may worsen prognosis due to delayed treatment. Here, we report a case of acquired FXIII deficiency, followed by a review of FXIII deficiency cases in Japan. We performed a systematic review to investigate the present conditions of the diagnosis and treatment of FXIII deficiency, including the measurement of FXIII inhibitors in Japan. FXIII inhibitor testing was only performed in 29.7 of acquired FXIII deficiency cases. Clinical departments other than internal medicine and pediatrics were often involved in medical treatment at the time of onset. Therefore, it is important for doctors in clinical departments other than internal medicine and pediatrics to consider FXIII deficiency and perform FXIII inhibitor testing when examining patients with prolonged bleeding of unknown cause or persistent bleeding after trauma. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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14 pages, 5185 KiB

Open AccessEditor’s ChoiceReview

Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis

by Monika Brunclikova, Tomas Simurda, Jana Zolkova, Miroslava Sterankova, Ingrid Skornova, Miroslava Dobrotova, Zuzana Kolkova, Dusan Loderer, Marian Grendar, Jan Hudecek, Jan Stasko and Peter Kubisz

J. Clin. Med. 2022, 11(4), 1083; https://doi.org/10.3390/jcm11041083 - 18 Feb 2022

Cited by 16 | Viewed by 2485

Abstract

Congenital fibrinogen disorders are diseases associated with a bleeding tendency; however, there are also reports of thrombotic events. Fibrinogen plays a role in the pathogenesis of thrombosis due to altered plasma concentrations or modifications to fibrinogen’s structural properties, which affect clot permeability, resistance to lysis, and its stiffness. Several distinct types of genetic change and pathogenetic mechanism have been described in patients with bleeding and a thrombotic phenotype, including mutations affecting synthesis or processing in three fibrinogen genes. In this paper, we focused on familial hypofibrinogenemia, a rare inherited quantitative fibrinogen disorder characterized by decreased fibrinogen levels with a high phenotypic heterogeneity. To begin, we briefly review the basic information regarding fibrinogen’s structure, its function, and the clinical consequences of low fibrinogen levels. Thereafter, we introduce 15 case reports with various gene mutations derived from the fibrinogen mutation database GFHT (French Study Group on Hemostasis and Thrombosis), which are associated with congenital hypofibrinogenemia with both bleeding and thrombosis. Predicting clinical presentations based on genotype data is difficult. Genotype–phenotype correlations would be of help to better understand the pathologic properties of this rare disease and to provide a valuable tool for the identification of patients who are not only at risk of bleeding, but also at risk of a thrombotic event. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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Other

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8 pages, 1154 KiB

Open AccessBrief Report

High-Oxygen-Affinity Hemoglobins—Case Series and Review of the Literature

by Veroniki Komninaka, Pagona Flevari, Evangelia-Eleni Ntelaki, Eleni Yfanti, Theodoros Androutsakos, Ioannis Ntanasis-Stathopoulos and Evangelos Terpos

J. Clin. Med. 2024, 13(2), 458; https://doi.org/10.3390/jcm13020458 - 14 Jan 2024

Viewed by 567

Abstract

Modifications of the hemoglobin (Hb) structure in regions involving the regulation of oxygen transport may lead to an increased oxygen affinity for the hemoglobin molecule and impaired oxygen delivery to the tissues. Herein, we present six patients with high-oxygen-affinity Hb variants, either in heterozygous form or in compound heterozygosity (such as heterozygosity for Hb Hiroshima, Köln, Crete, and compound heterozygosity Hb Crete with β or δβ thalassemia), in order to demonstrate the need for prompt and accurate diagnosis and enrich the limited literature due to the rarity of such cases. Hb Crete, Hb Hiroshima, and Hb Köln have distinct pathophysiologies and may result in different clinical phenotypes. In conclusion, high-oxygen-affinity hemoglobins are rare and inherited within a dominant autosomal manner, have various clinical presentations, and should always be suspected in patients with erythrocytosis. Their management (as phlebotomy or low-dose aspirin) should be based on an individualized assessment of the risk of complications, the medical history, concomitant symptoms, and quality of life. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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8 pages, 234 KiB

Open AccessProtocol

A Stepwise Screening Protocol for Multiple Myeloma

by Marta Morawska, Jadwiga Dwilewicz-Trojaczek, Tomasz Stompór, Piotr Ligocki, Marek Stopiński, Michał Sutkowski, Norbert Grząśko, Anna Kordecka, Mariusz Kordecki, Artur Jurczyszyn, Dominik Dytfeld, Tomasz Wróbel, Krzysztof Jamroziak, Agnieszka Druzd-Sitek, Adam Walter-Croneck and Krzysztof Giannopoulos

J. Clin. Med. 2023, 12(4), 1345; https://doi.org/10.3390/jcm12041345 - 08 Feb 2023

Viewed by 1976

Abstract

Background: Monoclonal gammopathies and multiple myeloma should be screened in the primary care setting. Methods: The screening strategy consisted of an initial interview supported with the analysis of basic laboratory test results and the increasing laboratory workload in the following steps was developed based on characteristics of patients with multiple myeloma. Results: The developed 3-step screening protocol includes evaluation of myeloma-related bone disease, two renal function markers, and three hematologic markers. In the second step, the erythrocyte sedimentation rate (ESR) and the level of C-reactive protein (CRP) were cross-tabulated to identify persons qualifying for confirmation of the presence of monoclonal component. Patients with diagnosed monoclonal gammopathy should be referred to a specialized center to confirm the diagnosis. The screening protocol testing identified 900 patients with increased ESR and normal level of CRP and 94 of them (10.4%) had positive immunofixation. Conclusions: The proposed screening strategy resulted in an efficient diagnosis of monoclonal gammopathy. The stepwise approach rationalized the diagnostic workload and cost of screening. The protocol would support primary care physicians, standardizing the knowledge about the clinical manifestation of multiple myeloma and the method of evaluation of symptoms and diagnostic test results. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

23 pages, 898 KiB

Open AccessSystematic Review

Defining the Impact of Social Drivers on Health Outcomes for People with Inherited Bleeding Disorders

by Karina Lopez, Keri Norris, Marci Hardy and Leonard A. Valentino

J. Clin. Med. 2022, 11(15), 4443; https://doi.org/10.3390/jcm11154443 - 30 Jul 2022

Cited by 4 | Viewed by 2774

Abstract

The ways in which the social drivers of health, also known as the social determinants of health (SDOH), affect health outcomes for people with inherited bleeding disorders (PwIBDs) is unclear. This systematic review of the published literature examines the impact of SDOH on health outcomes in PwIBDs. Articles that included the following parameters in PubMed informed this study: published in English between 2011–2021; available in free full text; study population diagnosed with an inherited bleeding disorder; and study measured at least one of the clinical/non-clinical outcome measures: bleeding frequency, chronic pain, mortality, quality of life (QOL), and/or cost. The main findings from the 13 included articles emphasized the unmet need for reducing the economic burden with sustainable population health strategies and treatment options for PwIBDs. Rural location was also a significant contributor to both delayed diagnosis and decreased access to care. Furthermore, the need for a multidisciplinary comprehensive care team to address physical, psychosocial, and emotional needs of PwIBDs was raised as a priority target in the desire for equitable and optimal health. This systematic literature review suggests that the SDOH are associated with inferior health outcomes and may influence the clinical progression of inherited bleeding disorders. Full article

(This article belongs to the Special Issue Diagnosis and Management of Blood Diseases)

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