Abstract:
:This 22-year-old women presented to the ante-natal clinic of this hospital for prenatal screening for beta-thalassemia. Cation exchange high performance liquid chromatography (HPLC) using 'Beta Thalassemia Short Program' on Bio-Rad 'Variant' system revealed HbC value of 81.6%. The CBC showed microcytic hypochromic anemia. The HPLC and CBC suggested the possibility of compound heterozygote state for HbC/beta-thalassemia. The alkali and acid electrophoresis findings were consistent with the above diagnosis. The DNA analysis confirmed compound heterozygote state for HbC/beta(0)-thalassemia (Fr 8/9 mutation). The studies on the parents showed that mother was a compound heterozygote for HbD(Punjab) and HbC while father had beta-thalassemia trait. To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbD(Punjab) and HbC).
journal_name
Int J Lab Hematoljournal_title
International journal of laboratory hematologyauthors
Kumar S,Rana M,Handoo A,Saxena R,Verma IC,Bhargava M,Sood SKdoi
10.1111/j.1365-2257.2006.00850.xsubject
Has Abstractpub_date
2007-10-01 00:00:00pages
381-5issue
5eissn
1751-5521issn
1751-553Xpii
CLH850journal_volume
29pub_type
杂志文章abstract:INTRODUCTION:Thrombotic complications are a main concern in patients with myeloproliferative neoplasms. Recently, a gain-of-function mutation of the gene encoding the JAK2 tyrosine kinase that results in a valine-to-phenylalanine substitution at position 617 (V617F) has been described. Since the description of the JAK2...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,评审
doi:10.1111/j.1751-553X.2010.01275.x
更新日期:2011-04-01 00:00:00
abstract::The bone marrow examination is an essential investigation for the diagnosis and management of many disorders of the blood and bone marrow. The aspirate and trephine biopsy specimens are complementary and when both are obtained, they provide a comprehensive evaluation of the bone marrow. The final interpretation requir...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,实务指引
doi:10.1111/j.1751-553X.2008.01100.x
更新日期:2008-10-01 00:00:00
abstract:INTRODUCTION:Laboratory investigations for bleeding disorders are warranted when an individual has a personal and/or family history of bleeding, and/or laboratory findings that suggest the possibility of an inherited or acquired bleeding disorder. METHODS:This review summarizes author's experience with ordering and re...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,评审
doi:10.1111/ijlh.12822
更新日期:2018-05-01 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
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abstract:INTRODUCTION:In the cytogenetically normal population of AML (CN-AML), FLT3-ITD-positive and wild-type NPM1 is correlated with a worse outcome, and FLT3-ITD-negative with NPM1-mut is correlated with a better outcome. This leaves a large subpopulation of CN-AML patients without NPM1 or FLT3-ITD mutations with heterogene...
journal_title:International journal of laboratory hematology
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abstract:INTRODUCTION:The Sysmex XN-series is a new automated hematology analyzer designed to improve the accuracy of cell counts and the specificity of the flagging events. METHODS:The basic characteristics and the performance of new measurement channels of the XN were evaluated and compared with the Sysmex XE-2100 and the ma...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12254
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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
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abstract::Eosinophilia is typically secondary, that is, reactive, in nature and is associated with a wide variety of neoplastic and non-neoplastic disorders. Clonal eosinophilia is also seen in a wide variety of hematopoietic neoplasms, and sub-classification can be diagnostically challenging. A proper evaluation of persistent ...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,评审
doi:10.1111/ijlh.12955
更新日期:2019-04-01 00:00:00
abstract:INTRODUCTION:The study aims to evaluate the diagnostic utility of thyrogastric immune features in the identification of intrinsic factor antibody negative (IFA -ve) pernicious anaemia (PA) patients. METHODS:Clinico-pathological features of 'intrinsic factor antibody positive (IFA +ve) PA' and 'IFA -ve presumed PA' Chi...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2010.01295.x
更新日期:2011-08-01 00:00:00
abstract::Three major types of rearrangements are involved in acute myeloid leukemias (AML): t(8;21)(q22;q22), inv(16)(p13q22), and 11q23/MLL abnormalities. Their precise identification becomes essential for diagnosis, prognosis, and therapeutic choices. Resulting fusion transcripts (FT) are also powerful markers for monitoring...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2009.01201.x
更新日期:2010-08-01 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
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更新日期:2020-12-01 00:00:00
abstract:INTRODUCTION:Gene expression profiling (GEP) risk models in multiple myeloma are based on 3'-end microarrays. We hypothesized that GEP risk signatures could retain prognostic power despite being translated and applied to whole-transcript microarray data. METHODS:We studied CD138-positive bone marrow plasma cells in a ...
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.12486
更新日期:2016-06-01 00:00:00
abstract:INTRODUCTION:Capillary electrophoresis (CE) is a high-resolution method for detection of hemoglobin Constant Spring (Hb CS). METHODS:The levels of Hb CS quantified by CE were compared among three groups of samples including heterozygote and homozygote of Hb CS as well as Hb H-CS disease classified by DNA molecular dia...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2011.01371.x
更新日期:2012-04-01 00:00:00
abstract:INTRODUCTION:Venous blood (VB) sampling for complete blood count (CBC) via venipuncture is the basic method for the daily evaluation of hematological patients. However, several issues during this process, such as venipuncture difficulty and repetitive attempts, may cause pain, phlebitis, hematomas, inadequate sampling,...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.13237
更新日期:2020-10-01 00:00:00
abstract::Although most patients with peripheral T-cell lymphoma (PTCL) show clonal rearrangement of T-cell receptor genes, few PTCLs show recurrent chromosomal abnormalities. We describe here a rare chromosomal rearrangement, t(14;19)(q11.2;q13.3), in a Lennert's lymphoma, a variant of PTCL, not otherwise specified. Sequential...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2011.01385.x
更新日期:2012-06-01 00:00:00
abstract:INTRODUCTION:Direct oral anticoagulants (DOAC) are commonly prescribed and measuring drug levels may be useful in a number of contexts. However, data on DOAC level measurement and their clinical utility in real-world studies are limited. METHODS:We carried out a 2-year retrospective cohort study of DOAC levels measure...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12944
更新日期:2019-04-01 00:00:00
abstract:INTRODUCTION:Iron-deficient erythropoiesis attributable to nutritional deficiency is the most common cause of anemia in early childhood. Beckman Coulter has proposed new parameters: red blood cell size factor (RSf) and low hemoglobin density (LHD%). [Formula: see text] The aims of the present communication were to esta...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/ijlh.12030
更新日期:2013-08-01 00:00:00
abstract:INTRODUCTION:Monitoring of factor IX (FIX) replacement therapy in haemophilia B relies on accurate coagulation assays. However, considerable interlaboratory variability has been reported for one-stage clotting (OSC) assays. This study aimed to evaluate the real-world, interlaboratory variability of routine FIX activity...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,多中心研究
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abstract:INTRODUCTION:Dehydration, fluid shifts or changes in coagulation occurring during air travel can trigger distinct reactions in the haematological system. Athletes are concerned that these effects might impair sporting performance, increase the risk of thrombosis or cause abnormalities in blood values that might be mist...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2012.01450.x
更新日期:2012-12-01 00:00:00
abstract::Significant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,评审
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更新日期:2017-05-01 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::Molecular monitoring of the BCR-ABL1 transcript in chronic myelogenous leukemia (CML) using quantitative real-time PCR (RQ-PCR) can be performed using either bone marrow (BM) or peripheral blood (PB). However, a recent report by Stock et al. [International Journal of Oncology 28 (2006) 1099] questioned the reliability...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2009.01198.x
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:Immediate reporting of critical values or test results significantly outside the normal range has a growing role in the management of patients, especially in life-threatening conditions. Due to the lack of international consensus, diverse approaches are used for determination of thresholds, reporting, docume...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
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更新日期:2019-12-01 00:00:00
abstract::The value of nontransferrin-bound iron (NTBI) as an index of iron overload in patients with thalassemia has been evaluated; however, data in patients with sickle cell disease (SCD) is limited. NTBI levels were evaluated in a cross-sectional study of 43 transfused patients with SCD. Patient charts were reviewed for dem...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
doi:10.1111/j.1751-553X.2010.01224.x
更新日期:2011-04-01 00:00:00
abstract:INTRODUCTION:The Sysmex XP-300(®) (XP-300) is a new, fully automated hematology analyzer, designed to generate complete blood counts (CBC) with 3-part differential. In our study, the XP-300 was evaluated as a point-of-care (POC) analyzer in an oncology setting. In which blood samples from patients with different pathol...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章,随机对照试验
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更新日期:2016-10-01 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: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
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更新日期:2021-02-01 00:00:00
abstract::The performance of factor VII (FVII) assays currently used by clinical laboratories was examined in North American Specialized Coagulation Laboratory Association (NASCOLA) proficiency tests. Data from 12 surveys conducted between 2008 and 2010, involving 20 unique specimens plus four repeat-tested specimens, were anal...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
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更新日期:2013-06-01 00:00:00
abstract:INTRODUCTION:Clinical reference intervals represent the normal range of clinical parameters for distinguishing healthy and sick individuals, and they show some variation among different populations. Many reference intervals are still lacking for the pediatric population in China. Thus, the aim of this study was to esta...
journal_title:International journal of laboratory hematology
pub_type: 杂志文章
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更新日期:2020-10-01 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
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更新日期:2020-06-01 00:00:00