Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls.

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 Hematol

authors

Giordano PC

doi

10.1111/ijlh.12037

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

465-79

issue

5

eissn

1751-5521

issn

1751-553X

journal_volume

35

pub_type

杂志文章,评审
  • Usefulness of automated fragmented red blood cell percentage in the diagnosis of paediatric haemolytic uraemic syndrome.

    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

    authors: Govindarajan S,Bhatia P,Dawman L,Tiewsoh K

    更新日期:2021-02-01 00:00:00

  • Use of Sysmex XN-10 red blood cell parameters for screening of hereditary red blood cell diseases and iron deficiency anaemia.

    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

    authors: Nivaggioni V,Bouriche L,Coito S,Le Floch AS,Ibrahim-Kosta M,Leonnet C,Arnoux I,Loosveld M

    更新日期:2020-12-01 00:00:00

  • ICSH recommendations for the measurement of haemoglobin F.

    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

    authors: Stephens AD,Angastiniotis M,Baysal E,Chan V,Davis B,Fucharoen S,Giordano PC,Hoyer JD,Mosca A,Wild B,International Council for The Standardisation of Haematology (ICSH).

    更新日期:2012-02-01 00:00:00

  • The diagnostic and clinical impact of genetics and epigenetics in acute myeloid leukemia.

    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

    authors: Ohgami RS,Arber DA

    更新日期:2015-05-01 00:00:00

  • Evaluation of amotosalem treated platelets over 7 days of storage with an automated cytometry assay panel.

    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

    authors: Diquattro M,De Francisci G,Bonaccorso R,Tagliavia AM,Marcatti M,Palma B,Agliastro R

    更新日期:2013-12-01 00:00:00

  • Clotting and chromogenic factor VIII assay variability in post-infusion and spiked samples containing full-length recombinant FVIII or recombinant factor VIII Fc fusion protein (rFVIIIFc).

    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

    authors: Kitchen S,Jennings I,Makris M,Kitchen DP,Woods TAL,Walker ID

    更新日期:2019-04-01 00:00:00

  • Comparison of five point-of-care D-dimer assays with the standard laboratory method.

    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

    authors: Antovic JP,Höög Hammarström K,Forslund G,Eintrei J,Sten-Linder M

    更新日期:2012-10-01 00:00:00

  • Discrepancies between APTT results determined with different evaluation modes on automated coagulation analyzers.

    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

    authors: Milos M,Herak DC,Zadro R

    更新日期:2010-02-01 00:00:00

  • Evaluation of the CellaVision DM automated microscope in pediatrics.

    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

    authors: Billard M,Lainey E,Armoogum P,Alberti C,Fenneteau O,Da Costa L

    更新日期:2010-10-01 00:00:00

  • Chronic active Epstein-Barr virus infection: A heterogeneous entity requiring a high index of suspicion for diagnosis.

    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

    authors: Ondrejka SL,Hsi ED

    更新日期:2020-06-01 00:00:00

  • Different kinetic patterns of BCR-ABL transcript levels in imatinib-treated chronic myeloid leukemia patients after achieving complete cytogenetic response.

    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

    authors: Qin YZ,Liu YR,Zhu HH,Li JL,Ruan GR,Zhang Y,Jiang Q,Jiang H,Li LD,Chang Y,Huang XJ,Chen SS

    更新日期:2008-08-01 00:00:00

  • The HemoScreen hematology point-of-care device is suitable for rapid evaluation of acute leukemia patients.

    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

    authors: Kristian Kur D,Thøgersen D,Kjeldsen L,Friis-Hansen L

    更新日期:2021-02-01 00:00:00

  • Evaluating the analytical performance of five new coagulation assays for the measurement of prothrombin time and activated thromboplastin time.

    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

    authors: Kitchen S,Geisen U,Kappelmayer J,Quehenberger P,Drieß J,Lowe A,Jones R,Boehm JG,Miles G,Rozsnyai G

    更新日期:2018-12-01 00:00:00

  • Multiplex fluorescence in situ hybridization in identifying chromosome involvement of complex karyotypes in de novo myelodysplastic syndromes and acute myeloid leukemia.

    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

    authors: Xu W,Li JY,Liu Q,Zhu Y,Pan JL,Qiu HR,Xue YQ

    更新日期:2010-02-01 00:00:00

  • Current and emerging approaches for evaluating platelet disorders.

    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

    authors: Podda G,Femia EA,Cattaneo M

    更新日期:2016-05-01 00:00:00

  • Telomerase activity and telomere length in acute leukemia: correlations with disease progression, subtypes and overall survival.

    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

    authors: Wang Y,Fang M,Sun X,Sun J

    更新日期:2010-04-01 00:00:00

  • The immature platelet fraction is a useful marker for predicting the timing of platelet recovery in patients with cancer after chemotherapy and hematopoietic stem cell transplantation.

    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

    authors: Yamaoka G,Kubota Y,Nomura T,Inage T,Arai T,Kitanaka A,Saigo K,Iseki K,Baba N,Taminato T

    更新日期:2010-12-01 00:00:00

  • Signal transducer and activator of transcription 3 (STAT3) gene polymorphisms are associated with treatment outcomes in acute myeloid leukemia.

    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

    authors: Zhong Y,Feng J,Chen B,Cheng L,Li Y,Qian J,Ding J,Gao F,Xia G

    更新日期:2012-08-01 00:00:00

  • Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.

    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

    authors: Llaudet-Planas E,Vives-Corrons JL,Rizzuto V,Gómez-Ramírez P,Sevilla Navarro J,Coll Sibina MT,García-Bernal M,Ruiz Llobet A,Badell I,Velasco-Puyó P,Dapena JL,Mañú-Pereira MM

    更新日期:2018-02-01 00:00:00

  • Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

    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

    authors: Nicchia E,Giordano P,Greco C,De Rocco D,Savoia A

    更新日期:2016-08-01 00:00:00

  • DOAC plasma levels measured by chromogenic anti-Xa assays and HPLC-UV in apixaban- and rivaroxaban-treated patients from the START-Register.

    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

    authors: Cini M,Legnani C,Padrini R,Cosmi B,Dellanoce C,De Rosa G,Marcucci R,Pengo V,Poli D,Testa S,Palareti G

    更新日期:2020-04-01 00:00:00

  • Low expression of TET2 gene in pediatric acute lymphoblastic leukemia is associated with poor clinical outcome.

    abstract:INTRODUCTION:TET2, a member of the Ten-Eleven translocation gene family, catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. Low expression of TET2 has been reported as a prognostic factor for several types of malignancies in adult patients. However, there have been few data on the effect of...

    journal_title:International journal of laboratory hematology

    pub_type: 杂志文章

    doi:10.1111/ijlh.13099

    authors: Zhang P,Weng WW,Chen P,Zhang Y,Ruan JF,Ba DD,Xu WQ,Tang YM

    更新日期:2019-10-01 00:00:00

  • Validation of reflex testing rules and establishment of a new workflow for body fluid cell analysis using a Sysmex XN-550 automatic hematology analyzer.

    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

    authors: Cho YU,You E,Jang S,Park CJ

    更新日期:2018-06-01 00:00:00

  • Performance evaluation of a new Stago® automated haemostasis analyser: The STA R Max® 2.

    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

    authors: Cupaiolo R,Govaerts D,Blauwaert M,Cauchie P

    更新日期:2019-12-01 00:00:00

  • Inappropriate use of protein C, protein S, and antithrombin testing for hereditary thrombophilia screening: an experience from a large university hospital.

    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

    authors: Tientadakul P,Chinthammitr Y,Sanpakit K,Wongwanit C,Nilanont Y

    更新日期:2011-12-01 00:00:00

  • The evaluation of the relevance of thrombin generation and procoagulant activity in thrombotic risk assessment in BCR-ABL-negative myeloproliferative neoplasm patients.

    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

    authors: Baccouche H,Ben Jemaa M,Chakroun A,Chadi S,Mahjoub S,Sfar I,Gorgi Y,Ben Romdhane N

    更新日期:2017-10-01 00:00:00

  • Acute myeloid leukaemia: How to combine multiple tools.

    abstract::The pathogenesis of acute myeloid leukaemias (AML) frequently requires at least 3 mutations in different cellular pathways. In many cases, mutations in proliferation/survival mechanisms and differentiation pathways are involved. Genetic aberrations explain the pathogenesis of AML, provide prognostic criteria and guide...

    journal_title:International journal of laboratory hematology

    pub_type: 杂志文章

    doi:10.1111/ijlh.12831

    authors: Merino A,Boldú L,Ermens A

    更新日期:2018-05-01 00:00:00

  • Analysis of polymorphisms of TNF-α, LT-α, IL-10, IL-12 and CTLA-4 in patients with warm autoimmune haemolytic anaemia.

    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

    authors: D'Abronzo LS,Barros MM,Bordin JO,Figueiredo MS

    更新日期:2012-08-01 00:00:00

  • Expression analysis of BECN1 in acute myeloid leukemia: association with distinct cytogenetic and molecular abnormalities.

    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

    authors: Zare-Abdollahi D,Safari S,Movafagh A,Ghadiani M,Tabarraee M,Riazi-Isfahani S,Gorji S,Keyvan L,Gachkar L

    更新日期:2016-04-01 00:00:00

  • Abrogation of red blood cell G6PD enzyme activity through Heat treatment: development of survey material for the UK NEQAS G6PD scheme.

    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

    authors: Roper DR,De la Salle B,Soni V,Fletcher K,Green JA

    更新日期:2017-06-01 00:00:00