Abstract:
:The consistent multi-ethnic migrations of the last decades have considerably changed the epidemiology of the hemoglobinopathies. Healthy carriers of these conditions are present today in many nonendemic parts of the world, and severely affected children are now born where these diseases were previously rare or unknown. Improving the competence in carrier diagnostics at the laboratory level is one of the first concerns when introducing management and primary prevention of the severe conditions in nonendemic areas. This review describes how and when carriers should be correctly diagnosed and informed. The essential technologies needed for basic carrier diagnostics in different situations are summarized in some detail, and interpretation of the results and a number of related problems are discussed. The role of the hematology laboratory is essential, particularly in nonendemic areas where the first line of health care is often insufficiently aware of hemoglobinopathy management. Carriers living in nonendemic areas can be appropriately diagnosed and informed regarding genetic risk and prevention by well-organized laboratories. Both basic and specialized diagnostics are needed for the correct treatment for the anemic carriers, for primary prevention in couples at risk and for state-of-the art care of severely affected patients.
journal_name
Int J Lab Hematoljournal_title
International journal of laboratory hematologyauthors
Giordano PCdoi
10.1111/ijlh.12037subject
Has Abstractpub_date
2013-10-01 00:00:00pages
465-79issue
5eissn
1751-5521issn
1751-553Xjournal_volume
35pub_type
杂志文章,评审abstract:INTRODUCTION:Presence of schistocytes in peripheral blood smear supporting haemolysis is important for diagnosis and decision-making in paediatric haemolytic uraemic syndrome (HUS). High observer dependency and requirement of expertise for peripheral smear evaluation propels us to think of other modalities to overcome ...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13324
更新日期:2021-02-01 00:00:00
abstract:INTRODUCTION:In daily practice in haematology laboratories, red blood cell (RBC) abnormalities are frequent and their management is a real challenge. The aim of this study is to establish a "decision tree" using RBC and reticulocyte parameters from the SYSMEX XN-10 analyser to distinguish between patients with a heredi...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13278
更新日期:2020-12-01 00:00:00
abstract::Measurement of the Haemoglobin F in red cell haemolysates is important in the diagnosis of δβ thalassaemia, hereditary persistence of fetal haemoglobin (HPFH) and in the diagnosis and management of sickle cell disease. The distribution of Hb F in red cells is useful in the diagnosis of HPFH and in the assessment of fe...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,实务指引
doi:10.1111/j.1751-553X.2011.01367.x
更新日期:2012-02-01 00:00:00
abstract::Acute myeloid leukemia (AML) is a complex disease, for which our understanding of the role of genetic and epigenetic changes has undergone significant advancements. Newer diagnostic and prognostic classifications have increasingly incorporated such information, and novel therapies have been developed to target specifi...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,评审
doi:10.1111/ijlh.12367
更新日期:2015-05-01 00:00:00
abstract:INTRODUCTION:Pathogen Inactivation allows to overcome microbial contamination and growth related to storage of platelets concentrates (PC) at room temperature. The aim of our study was to evaluate the platelet storage lesion extending the storage period of pathogen inactivated platelet concentrates over 7 days using an...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12102
更新日期:2013-12-01 00:00:00
abstract:INTRODUCTION:Variability in FVIII measurement is a recognized problem. There are limited data for samples containing recombinant Factor VIII Fc fusion protein (rFVIIIFc). Many studies use samples for which factor concentrate has been spiked into FVIII deficient plasma in vitro. This approach requires validation. AIM/M...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12940
更新日期:2019-04-01 00:00:00
abstract:INTRODUCTION:D-dimer (DD) assays are effective for the exclusion of deep-vein thrombosis (DVT), but point-of-care (POC) DD assays have not been fully evaluated. METHODS:We have compared five POC DD assays (Pathfast, Cardiac, Vidas, Stratus and NycoCard) with our routine DD method (Tinaquant), testing 60 samples from p...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2012.01421.x
更新日期:2012-10-01 00:00:00
abstract::Modern photo-optical coagulometers collect optical data in the form of reaction curves and offer a possibility to determine clotting times at different points of clot formation by using different evaluation modes. The objectives of this study were to determine the possible impact of an evaluation mode on activated par...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2008.01111.x
更新日期:2010-02-01 00:00:00
abstract::The DM is an automated microscope, which performs WBC differential counts and monitors red cell morphology. The user either validates the cell recognition if the DM has correctly identified the WBCs or reclassifies the WBCs in the good category in case of a DM mis-assignment. Morphological anomalies of leukocytes, red...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2009.01219.x
更新日期:2010-10-01 00:00:00
abstract::Chronic active Epstein-Barr virus infection of T- and NK-cell type, systemic form, is a rare entity within the spectrum of EBV-driven T- and NK-cell lymphoproliferative disorders. Established diagnostic criteria and a characteristic clinical course help to differentiate it from other closely related EBV-positive neopl...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,评审
doi:10.1111/ijlh.13199
更新日期:2020-06-01 00:00:00
abstract::Bone marrow BCR-ABL transcript levels were monitored serially by real-time quantitative PCR in 46 imatinib-treated chronic myeloid leukemia patients after achieving complete cytogenetic response (CCyR) for a median of 42 months (range: 9-53). Of 41 patients in continuous CCyR, 32 and nine could achieve a >/=3-log (MMo...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2007.00962.x
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:Hematological patients, receiving intensive chemotherapy (predominantly acute leukemia patients), have repeated postchemotherapy periods with severe bone marrow suppression. As a result, these patients require regular monitoring of the complete blood counts (CBC) for optimal patient care. To reduce the strai...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13330
更新日期:2021-02-01 00:00:00
abstract:INTRODUCTION:New methods for coagulation tests require careful assessment before routine use. We evaluated the analytical performance of five new coagulation assays for measuring prothrombin time (PT) and activated partial thromboplastin time (aPTT). METHODS:PT Rec, PT Owren, aPTT, aPTT Lupus and aPTT Screen assays (R...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12897
更新日期:2018-12-01 00:00:00
abstract::Complex chromosomal aberrations (CCA) can be detected in a substantial proportion of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), which are associated with very poor prognosis. Conventional cytogenetics (CC) cannot accurately define the specific alterations in CCA. Multiplex fluorescence in situ h...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2008.01101.x
更新日期:2010-02-01 00:00:00
abstract::Platelets play a central role in physiological hemostasis and also in pathological thrombosis. It is well established that congenital or acquired abnormalities of platelet function are associated with a heightened risk of bleeding of variable severity and excessive hemorrhage after surgery or trauma. Several kinds of ...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12539
更新日期:2016-05-01 00:00:00
abstract::The progressive shortening of telomeres and the activation of telomerase are considered to be one of the important mechanisms in cellular immortalization and disease progression. Bone marrow samples were collected from 148 patients with acute leukemia (AL). Based on the stage of the disease, patients were divided into...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2009.01178.x
更新日期:2010-04-01 00:00:00
abstract::Prediction of the timing of platelet recovery after chemotherapy and hematopoietic stem cell transplantation (HSCT) allows for optimal platelet transfusion. We assessed the clinical utility of the percentage value of the immature platelet fraction (IPF%) monitored using an XE-2100 automated hematology analyzer to pred...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2010.01232.x
更新日期:2010-12-01 00:00:00
abstract:INTRODUCTION:In the Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling pathway, STAT3 is one of the most prominent prognosis factors for cancer and leukemia. STAT3 activation might promote cellular transformation and therefore have an important role in human tumors. This study aimed to i...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2012.01406.x
更新日期:2012-08-01 00:00:00
abstract:INTRODUCTION:New generation osmotic gradient ektacytometry has become a powerful procedure for measuring red blood cell deformability and therefore for the diagnosis of red blood cell membrane disorders. In this study, we aim to provide further support to the usefulness of osmotic gradient ektacytometry for the differe...
journal_title:International journal of laboratory hematology
pub_type: 临床试验,杂志文章
doi:10.1111/ijlh.12746
更新日期:2018-02-01 00:00:00
abstract:INTRODUCTION:Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive disease. Patients are compound heterozygotes for a loss-of-function allele, which in most cases is a large genomic deletion on chromosome 1q21.1 containing the RBM8A gene, and a noncoding variant located in the 5'UTR (rs139428292) ...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12516
更新日期:2016-08-01 00:00:00
abstract:INTRODUCTION:To measure direct factor Xa inhibitor (apixaban, edoxaban, rivaroxaban) concentrations, dedicated chromogenic anti-Xa assays are recommended as suitable methods to provide rapid drug quantification. Moreover, the high-performance liquid chromatography with ultraviolet detection (HPLC-UV) is reported as a r...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13159
更新日期:2020-04-01 00:00:00
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journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13099
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:We developed and validated reflex testing rules for the microscopic examination (ME) of body fluids (BFs) on the Sysmex XN-550 (Sysmex Corporation) instrument. METHODS:We assessed the detection limits, precision, linearity, and carryover. To develop the reflex testing rules (derivation arm), we tested 515...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12774
更新日期:2018-06-01 00:00:00
abstract:INTRODUCTION:The STA R Max® 2 is a new coagulation analyser developed by Diagnostica Stago, able to perform clotting, chromogenic and immuno-turbidimetric tests. A pre-analytical module build into the cap-piercing needle performs the sample integrity verification (sample tube filling and measurement of haemolysis, icte...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13100
更新日期:2019-12-01 00:00:00
abstract:INTRODUCTION:Deficiencies of protein C, protein S, and antithrombin are the main inherited risk factors in Thai patients with venous thromboembolism, although the prevalence is not high. METHODS:To evaluate the appropriate use of the testing for these proteins, the test orders of 503 patients were retrospectively revi...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2011.01332.x
更新日期:2011-12-01 00:00:00
abstract:INTRODUCTION:It has been recently suggested that microparticles (MP) play a role in the pathogenesis of thrombotic complications. This study aimed to assess the contribution of procoagulant activity expressed by circulating MP in thrombotic events in MPN patients. METHODS:Seventy-four MPN patients were enrolled in a t...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12676
更新日期:2017-10-01 00:00:00
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journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12831
更新日期:2018-05-01 00:00:00
abstract:INTRODUCTION:Autoimmune haemolytic anaemia (AIHA) is defined as the increased destruction of red blood cells (RBCs) in the presence of anti-RBC autoantibodies and/or complement. Its pathogenesis is multifactorial and includes changes in mechanisms of cytokine production and functionality. A number of recent studies hav...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2012.01400.x
更新日期:2012-08-01 00:00:00
abstract:INTRODUCTION:In acute myeloid leukemia (AML), it has been shown that AML-derived cells often remain sensitive to autophagy-inducing stimuli, leading to the idea that harnessing the autophagy can be pertinent to AML cytotoxic therapy. Despite this promising notion, to date, there is no comprehensive study addressing aut...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12454
更新日期:2016-04-01 00:00:00
abstract:INTRODUCTION:Participation in external quality assessment (EQA) is central to the maintenance of high-quality laboratory results in patient diagnosis and clinical trials. Laboratories in the TAF112582 DETECTIVE study (ClinicalTrials.gov identifier: NCT01376167) are enrolled in the United Kingdom National Quality Assess...
journal_title:International journal of laboratory hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1111/ijlh.12627
更新日期:2017-06-01 00:00:00