Advances in diagnosis of mastocytosis and hypereosinophilic syndrome
Mastocytosis and hypereosinophilic syndrome (HES) are very rare neoplastic hematopoietic diseases. Mastocytosis is characterized by expansion and accumulation of clonal tissue mast cells in skin and/or various internal organs, while HES manifests with an increased number of eosinophils in the peripheral blood and tissue damage. These diseases represent a diagnostic challenge, since they can have overlapping clinical and pathological features. Recently, great advances in the molecular and immunophenotypic diagnosis of these two entities were achieved, contributing to the new World Health Organization (WHO) classification. (...
Source: Seminars in Hematology - May 28, 2018 Category: Hematology Authors: Irina Maric, Xiaoping Sun Source Type: research
Mass spectrometry and proteomics in hematology
Mass spectrometry-based techniques now enable the unbiased identification of proteins in complex mixtures including proteins isolated from cells and tissues. These powerful tools permit near-complete annotation of proteins expressed in cells, tissues or organs. Further, these techniques permit the interrogation of the numerous post translational modifications that govern cell-specific responses to signaling cues and underlie the functional heterogeneity of cellular composition and contribute to biological complexity. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 28, 2018 Category: Hematology Authors: Delphine C.M. Rolland, Megan S. Lim, Kojo S.J. Elenitoba-Johnson Tags: Review Source Type: research
Next Generation Sequencing in Hematolymphoid Neoplasia
Large scale sequencing projects over the past two decades have led to the identification of many common genomic alterations in hematolymphoid neoplasms, some of which with diagnostic, therapeutic and prognostic implications1 –3. Although these alterations can be tested individually with high sensitivity and specificity using dedicated single gene tests, it is increasingly impractical and costly to test them separately as the number of alterations grow. Instead, multiplex testing platforms that can test multiple target s in a specimen have been developed. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 27, 2018 Category: Hematology Authors: Frank C. Kuo Source Type: research
Detection of Paroxysmal Nocturnal Hemoglobinuria (PNH) in Bone Marrow Aspirates
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired condition in which, due to a mutation of the PIGA gene, hematopoietic cells lack proteins that are normally anchored to the cell surface by glycosylphosphatidylinositol (GPI). Thus, PNH cells show poor expression of surface proteins such as CD55 and CD59, and dim or absent binding of fluorescently-labeled modified aerolysin (FLAER). In clinical diagnostic laboratories, the detection and quantitation of PNH is currently performed by flow cytometry (FC) analysis of peripheral blood (PB) samples. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 27, 2018 Category: Hematology Authors: Alina Dulau-Florea, Irina Maric, Katherine R. Calvo, Raul C. Braylan Source Type: research
Sickle cell disease —Unanswered questions and future directions in therapy
Sickle cell disease (SCD) was regarded as a “disease of childhood” less than 50 years ago in 1960 [1], and only few children survived beyond their teens, while 25 years later, the Cooperative Study of Sickle Cell Disease reported a median age of death of 42 years for males and 48 years for females with HbSS, and that 85% HbSS patients wil l survive to adulthood [2]. More recent studies confirmed that the majority of newborns (94% to 99%) in well-resourced countries will now survive to adulthood [3-6], but early mortality remains. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 26, 2018 Category: Hematology Authors: Swee Lay Thein, John Tisdale Source Type: research
Molecular Assessment of Clonality in Lymphoid Neoplasms
Molecular clonality assays in B- and T-cell lymphoproliferative disorders often provide critical information in establishing a diagnosis of a lymphoproliferative disorder. These assays rely on the unique genetic structures that serve as assay targets, created in the process of generating immunoglobulin and T-cell receptors during B- and T-cell development. Molecular clonality assays are generally used when flow cytometry or immunohistochemistry have not sufficiently clarified the benign or malignant nature of a lymphoid proliferation. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 26, 2018 Category: Hematology Authors: Hao-Wei Wang, Mark Raffeld Source Type: research
Sickle Cell Disease- Unanswered Questions and Future Directions in therapy
Sickle cell disease was regarded as a “disease of childhood” less than 50 years ago in 1960 [1] and few children survived beyond their teens, while 25 years later, the Cooperative Study of Sickle Cell Disease reported a median age at death of 42 years for males and 48 years for females with HbSS and that 85% HbSS patients will survi ve to adulthood [2]. More recent studies confirmed that the majority of newborns (94 to 99%) in well-resourced countries will now survive to adulthood [3–6] but early mortality remains. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 26, 2018 Category: Hematology Authors: Guest Editors Swee Lay Thein, John Tisdale Source Type: research
Genetic therapies for sickle cell disease
After decades with few novel therapeutic options for sickle cell disease (SCD), autologous hematopoietic stem cell (HSC) based genetic therapies including lentiviral gene therapy (GT) and genome editing (GE) now appear imminent. Lentiviral GT has advanced considerably in the past decade with promising clinical trial results in multiple disorders. For β-hemoglobinopathies, GT strategies of gene addition and fetal hemoglobin (HbF) induction through BCL11A regulation are both being evaluated in open clinical trials. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 7, 2018 Category: Hematology Authors: Erica B. Esrick, Daniel E. Bauer Tags: 55/3 Sickle Cell Disease Source Type: research
When there is no Match, the Game is not over: Alternative Donor Options for Hematopoietic Stem Cell Transplantation in Sickle Cell Disease
This report summarizes major alternative donor transplantation studies reported to date and ongoing and upcoming clinical trials. (Source: Seminars in Hematology)
Source: Seminars in Hematology - May 3, 2018 Category: Hematology Authors: J.J. Joseph, A. Abraham, C.D. Fitzhugh Source Type: research
Targeting HbS polymerization
The mutation of β 6 from glu to val in hemoglobin is responsible for the polymer formation that leads to vaso-occlusion, and a range of severe consequences in sickle cell disease. The treatment of the disease can be addressed in many ways, but the prevention of polymer formation is one of the most fundamental appr oaches one can take. Such prevention includes affecting the polymer structure, or dilution of the fraction of polymerizable hemoglobin. The latter approach includes (1) induction of HbF, which does not itself, nor in hybrid form, join sickle polymers, or (2) restricting the allosteric change in hemo globin that ...
Source: Seminars in Hematology - April 27, 2018 Category: Hematology Authors: Frank A. Ferrone Source Type: research
Sickle cell disease: Translating clinical care to low-resource countries through international research collaborations
The vast majority of the world ’s population of children and adults with sickle cell disease (SCD) are born in low-resource settings, particularly in sub-Saharan Africa, the Caribbean, the Middle East, and India. As a result numerous well-established, cost-effective, and evidence-based strategies for managing SCD such as newbor n screening, early education, vaccinations, screening for stroke prevention, and treatments with safe transfusions and hydroxyurea are often unavailable, leading to substantial morbidity and increased mortality. (Source: Seminars in Hematology)
Source: Seminars in Hematology - April 25, 2018 Category: Hematology Authors: Luke R. Smart, Arielle G. Hernandez, Russell E. Ware Tags: Review article Source Type: research
Curative therapies: Allogeneic hematopoietic cell transplantation from matched related donors using myeloablative, reduced intensity, and nonmyeloablative conditioning in sickle cell disease
Sickle cell disease (SCD) chronically damages multiple organs over the lifetime of affected individuals. Allogeneic hematopoietic cell transplantation (allo-HCT) is the most studied curative intervention. Fully matched related marrow, peripheral blood derived, or cord blood HCT have the best transplant outcome for symptomatic patients with SCD. For patients with asymptomatic or milder disease who have this donor option available, risks and benefits of HCT should be discussed among the patient, family, treating hematologist, and transplant physician, and decision to proceed to HCT should be individualized. (Source: Seminars in Hematology)
Source: Seminars in Hematology - April 25, 2018 Category: Hematology Authors: Gregory M.T. Guilcher, Tony H. Truong, Santosh L. Saraf, Jacinth J. Joseph, Damiano Rondelli, Matthew M. Hsieh Tags: Review article Source Type: research
A Prospective Randomised Controlled Trial of a Single Intravenous Infusion of Ferric Carboxymaltose vs Single Intravenous Iron Polymaltose or Daily Oral Ferrous Sulphate in the Treatment of Iron Deficiency Anaemia in Pregnancy
This study aims to compare the efficacy and safety of a newly available intravenous (IV) iron preparation, ferric carboxymaltose (FCM), against IV iron polymaltose (IPM), and standard oral iron (ferrous sulphate) for the treatment of IDA in pregnancy. This is an open-labelled prospective randomised controlled trial (RCT) with intention-to-treat analysis conducted at a primary health care facility with a single tertiary referral centre in Launceston. (Source: Seminars in Hematology)
Source: Seminars in Hematology - April 25, 2018 Category: Hematology Authors: Alhossain A. Khalafallah, Annemarie Hyppa, Anthony Chuang, Fayez Hanna, Emily Wilson, Christine Kwok, Carl Yan, Zara Gray, Ronnie Mathew, Peter Falloon, Amanda Dennis, Toly Pavlov, John Carson Allen Tags: Research Article Source Type: research
Sickle cell disease: Transslating clinical care to low-resource countries through international research collaborations
The vast majority of the world ′s population of children and adults with sickle cell disease (SCD) are born in low-resource settings, particularly in sub-Saharan Africa, the Caribbean, the Middle East, and India. As a result numerous well-established, cost-effective, and evidence-based strategies for managing SCD such as newbor n screening, early education, vaccinations, screening for stroke prevention, and treatments with safe transfusions and hydroxyurea are often unavailable, leading to substantial morbidity and increased mortality. (Source: Seminars in Hematology)
Source: Seminars in Hematology - April 25, 2018 Category: Hematology Authors: Luke R. Smart, Arielle G. Hernandez, Russell E. Ware Source Type: research
Curative therapies - allogeneic hematopoietic cell transplantation from matched related donors using myeloablative, reduced intensity, and non-myeloablative conditioning in sickle cell disease
Sickle cell disease (SCD) chronically damages multiple organs over the life time of affected individuals. Allogeneic hematopoietic cell transplantation (allo-HCT) is the most studied curative intervention. Fully matched related marrow, peripheral blood derived, or cord blood HCT have the best transplant outcome for symptomatic patients with SCD. For patients with asymptomatic or milder disease who have this donor option available, risks and benefits of HCT should be discussed among the patient, family, treating hematologist, and transplant physician, and decision to proceed to HCT should be individualized. (Source: Seminars in Hematology)
Source: Seminars in Hematology - April 25, 2018 Category: Hematology Authors: Gregory M.T. Guilcher, Tony H. Truong, Santosh L. Saraf, Jacinth J. Joseph, Damiano Rondelli, Matthew M. Hsieh Source Type: research
