Abstract:
:Mutations at positions beta IVS1-6, beta IVS1-110, and beta 39 of the beta globin gene are responsible for the three most common thalassemic genes in the Mediterranean population. The polymerase chain reaction (PCR) was employed to amplify a 536 base pair segment surrounding this region. Nonradioactive labelling of an oligonucleotide probe, specific for the beta IVS1-110 mutation, was achieved by incorporation of biotin-16-dUTP into a standard 3'-end labelling procedure. This probe was subsequently hybridized with the PCR amplification product and permitted detection of the mutant gene in a homozygous beta thalassemic child by a simple colour detection method using a streptavidin-alkaline phosphatase conjugate and NBT/BCIP (nitroblue tetrazolium/5-bromo-4-chloro-3-indolyl phosphate) substrate. A known cloned mutant gene was similarly detected. Results could be obtained within 48 hr. These findings suggest that such an approach could provide a rapid and specific means for detection of beta thalassemic mutations without the need for radioactive probes.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Hendy JG,Cauchi MNdoi
10.1002/ajh.2830340213subject
Has Abstractpub_date
1990-06-01 00:00:00pages
151-3issue
2eissn
0361-8609issn
1096-8652journal_volume
34pub_type
杂志文章abstract::The content of peripheral blood B cells (B1+) was reduced in patients of multiple myeloma (MM) and not in those with benign monoclonal gammopathy (BMG) compared to normal donors (P less than 0.01). This observation correlated with the suppression of synthesis of normal immunoglobulin (Ig) in MM. Thus, cytokine activit...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830300208
更新日期:1989-02-01 00:00:00
abstract::The effect of alcohol on inorganic and organic iron absorption was studied in 70 subjects, using a whole-body counter technique. The mean iron absorption of a test dose was 24.44%, while in the presence of whisky, absorption fell to 9.73% (P less than 0.0001). Absorption of a test dose in the presence of whisky withou...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830050307
更新日期:1978-01-01 00:00:00
abstract::Thalassemia is one of the most prevalent monogenic diseases usually caused by quantitative defects in the production of β-globin leading to severe anemia. Technological advances in genome sequencing, stem cell selection, viral vector development, transduction and gene editing strategies now allow for efficient exvivo ...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.25909
更新日期:2020-09-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24252
更新日期:2016-02-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830270405
更新日期:1988-04-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25111
更新日期:2018-07-01 00:00:00
abstract::Extensive extralymphatic Hodgkin disease developed in a young man with common variable immunodeficiency manifested by hypogammaglobulinemia, recurrent sinopulmonary infections, and multiple autoimmune phenomena. Both humoral and cell-mediated immune dysfunction were present prior to treatment. After two cycles of chem...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830320212
更新日期:1989-10-01 00:00:00
abstract::Fifteen recently diagnosed patients with acute leukemias admitted for induction chemotherapy were selected for study. When thrombocytopenic (venous platelet count less than 20 X 10(9)/l) these patients received prophylactic platelet transfusions. A total of 67 platelet transfusion therapies were administered and evalu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830110305
更新日期:1981-11-01 00:00:00
abstract::A growing body of evidence suggests that iron overload is associated with inferior outcomes after myeloablative allogeneic hematopoietic stem cell transplantation (HSCT). However, all of those studies used surrogate markers of iron overload, especially serum ferritin, and most had a retrospective design. We conducted ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23188
更新日期:2012-06-01 00:00:00
abstract::This study demonstrates the quantitative characteristics of the first patient-reported outcome (PRO) tool developed for patients with nontransfusion-dependent β-thalassemia (NTDT), the NTDT-PRO© . A multicenter validation study was performed over 24 weeks, involving 48 patients from Italy, Lebanon, Greece, and Thailan...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.25344
更新日期:2019-02-01 00:00:00
abstract::Hemostatic changes were evaluated in ten patients with acute lymphoblastic leukemia and lymphoma who received chemotherapy with L-asparaginase, vincristine, and prednisolone for 1 week. Following treatment, prothrombin time and activated partial thromboplastin time were significantly prolonged, while a marked decrease...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830320105
更新日期:1989-09-01 00:00:00
abstract::A patient with chronic myelogenous leukemia (CML) had a Philadelphia chromosome (Ph') [t(9q+;22q-)] in all cells and trisomy C in 13% of cells (later determined to be trisomy 8) at the time of diagnosis. After 21 months of intermittent treatment with busulfan, the acute phase developed with the appearance of an additi...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830060208
更新日期:1979-01-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830300107
更新日期:1989-01-01 00:00:00
abstract::Several syndromes characterized by striking eosinophilia may be complicated by thrombosis. The experiments described indicate that, paradoxically, eosinophils and certain of their constituents inhibit the activation of Hageman factor (HF, factor XII). In earlier studies, suspensions of mixed types of granulocytes, oth...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830420127
更新日期:1993-01-01 00:00:00
abstract::Defects in stomatin, alpha-adducin, and beta-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reaction-based genotyping te...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>
更新日期:1999-01-01 00:00:00
abstract::In order to assess the functional property of neonatal polymorphonuclear leukocytes (PMNs), we studied their chemoattractant-stimulated superoxide anion (O2-) production using a soluble chemotactic peptide N-formyl-methionyl-leucyl-phenylalanine (FMLP) as a PMN stimulus. O2- production by neonatal PMNs was increased: ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830270304
更新日期:1988-03-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830150207
更新日期:1983-09-01 00:00:00
abstract::Immune dysregulation and altered T-cell hemostasis play important roles in the pathogenesis of myelodysplastic syndromes (MDS). Recent studies suggest an increased risk of MDS among patients with autoimmune diseases. Here, we investigated the prevalence of autoimmune diseases among MDS patients, comparing characterist...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24333
更新日期:2016-05-01 00:00:00
abstract::ASXL1 and SRSF2 mutations in AML are frequently found in patients with preexisting myeloid malignancies and are individually associated with poor outcomes. In this multi-institutional retrospective analysis, we assessed the genetic features and clinical outcomes of 43 patients with ASXL1mut SRSF2mut AML and compared o...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.26110
更新日期:2021-01-27 00:00:00
abstract::In thalassemia, fetal hemoglobin (HbF) augmentation with hydroxycarbamide (also known as hydroxyurea) is not always successful. The expected parallel effects on red cell (RBC) membrane deformability, cell hydration, and membrane phospholipid organization, all important for extending RBC life span and increasing Hb, ha...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21266
更新日期:2008-11-01 00:00:00
abstract::Systemic light-chain (AL) amyloidosis may be associated with acquired factor X (FX) deficiency and optimal management of this coagulopathy is unknown. We reviewed our experience with 60 patients with isolated FX deficiency (< or =50%) due to AL amyloidosis that underwent an invasive procedure between 1975 and 2007. Th...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21603
更新日期:2010-03-01 00:00:00
abstract::Platelet-rich plasma were treated with increasing concentrations of vitamin E (alpha-tocopherol). Washed platelets were exposed to oxidized low density lipoprotein (LDL) and examined by aggregometry and electron microscopy. The treatment of washed platelets by oxidized LDL induced morphological signs of activation lik...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199903)60:3<242::aid-ajh15
更新日期:1999-03-01 00:00:00
abstract::The -117(G-->A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and beta zero 39...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830490402
更新日期:1995-08-01 00:00:00
abstract::We have investigated whether the quantitative flow cytometry is an useful tool to better characterize B-cell chronic lymphoproliferative disorders (CLDs). Peripheral blood samples from 104 patients with leukemic B-cell disorders and 20 healthy donors were analyzed. Directly phycoerythrin-conjugated CD19, CD20, CD22, C...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/1096-8652(200008)64:4<275::aid-ajh7>3.0.co
更新日期:2000-08-01 00:00:00
abstract::Invasive fungal disease (IFD) is a significant cause of morbidity and mortality in patients undergoing treatment for acute leukemia (AL). Antifungal prophylactic strategies are associated with significant toxicities and cost. We performed a retrospective study of the incidence and risk factors for IFD among patients n...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21776
更新日期:2010-09-01 00:00:00
abstract::Lysosomes (granules) of rabbit PMN leukocytes were extracted with either HCl or H2SO4, and the extracts were chromatographed over Sephadex to separate protein constituents. Some of the low molecular weight cationic proteins homogeneous on SDS PAGE (8% and 12.5% gels) were characterized by electrophoretic mobility in a...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830070309
更新日期:1979-01-01 00:00:00
abstract::The incidence of drug-induced neutropenia has not changed in the western hemisphere over the last 30 years. Yet, the drug panorama has changed considerably. This implies that host factors may play an intriguing role for this idiosyncratic reaction. The knowledge as to mechanisms for the reaction has advanced with emer...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.21433
更新日期:2009-07-01 00:00:00
abstract::Six patients with thrombotic microangiopathy associated with drug therapy had serial analyses of von Willebrand factor (vWF) multimeric patterns in their EDTA-plasma samples by sodium dodecyl sulfate-1% agarose gel electrophoresis and autoradiography. In the plasma of five patients (one with chronic myelogenous leukem...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830420306
更新日期:1993-03-01 00:00:00
abstract::An HTLV-I-seronegative case of adult T-cell leukemia (ATL) carrying the HTLV-I genome is reported. Screening serological tests were negative and Western blot analysis revealed only a faint band for HTLV-I p24. Polymerase chain reaction (PCR) disclosed the presence of HTLV-I gag, pol, env, pX, and LTR sequences in the ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199610)53:2<133::AID-AJH13
更新日期:1996-10-01 00:00:00
abstract::Variable survival outcomes are seen following treatment for aggressive non-Hodgkin lymphoma (NHL). This study examined whether outcomes for aggressive B-cell NHL are associated with single nucleotide polymorphisms (SNPs) in oxidative stress-related genes, which can alter drug metabolism and immune responses. Genotypes...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23709
更新日期:2014-06-01 00:00:00