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-thal to haplotype II. Haplotype II beta zero 39-thal chromosome carries the A gamma T gene which is a useful marker of gamma-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the A gamma I, A gamma T, and G gamma globin level was determined. A gamma T was underexpressed while G gamma was significantly increased, which suggest that in -117 A gamma HPFH/beta zero 39-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated A gamma gene and the adjacent G gamma gene.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Pistidda P,Frogheri L,Oggiano L,Guiso L,Manca L,Dore F,Masala B,Gilman JG,Longinotti Mdoi
10.1002/ajh.2830490402subject
Has Abstractpub_date
1995-08-01 00:00:00pages
267-70issue
4eissn
0361-8609issn
1096-8652journal_volume
49pub_type
杂志文章abstract::Total body irradiation (TBI) has been thought to promote donor cell engraftment in allogeneic hematopoietic cell transplantation (HCT) from alternative donors. However, recent progress in HCT strategies may affect the clinical significance of TBI on neutrophil engraftment. With the use of a Japanese transplant registr...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24613
更新日期:2017-02-01 00:00:00
abstract::Matching for HLA-A, -B, -C, and -DRB1 loci (8/8 match) is currently the gold standard for unrelated donor hematopoietic cell transplantation (HCT). In Europe, patients are also matched at the HLA-DQB1 loci (10/10 match). However, there is increasing evidence that matching at HLA-DRB3/4/5 loci may help to lower transpl...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25133
更新日期:2018-05-04 00:00:00
abstract::Bone marrow cells, peripheral blood lymphocytes, and sera from patients with sickle-cell anemia in hypoproliferative crisis were studied in the plasma clot culture system in the presence or absence of erythropoietin (Epo). Bone marrow cells from five patients demonstrated a marked ability to form erythroid colonies in...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830080103
更新日期:1980-01-01 00:00:00
abstract::The recent progress in sensitive KIT D816V mutation analysis suggests that mutation analysis of peripheral blood (PB) represents a promising diagnostic test in mastocytosis. However, there is a need for systematic assessment of the analytical sensitivity and specificity of the approach in order to establish its value ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23672
更新日期:2014-05-01 00:00:00
abstract::Four factor XI (F XI)-deficient patients are described, all of whom formed circulating anticoagulants against F X1. In the three most severely affected patients (F XI 0%-6% activity), the anticoagulant appeared to have been stimulated by plasma infusion. However, in the milder case (25% F XI activity), no infusion had...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830260405
更新日期:1987-12-01 00:00:00
abstract::Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only curative option for primary hemophagocytic lymphohistiocytosis (HLH), a rare disease of infants and young children, characterized by recurrent fever, hepatosplenomegaly, and cytopenia. We report a case of successful engraftment and stable fu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10266
更新日期:2003-02-01 00:00:00
abstract::Venous thromboembolism (VTE) recurs frequently. Greater height is associated with increased risk of incident VTE, but it is unclear whether height is related to risk of VTE recurrence. Recurrent VTE is associated with substantial morbidity and mortality, thus identifying individuals at greatest risk of experiencing a ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23199
更新日期:2012-07-01 00:00:00
abstract:DISEASE OVERVIEW:The myelodysplastic syndromes (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic th...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.24102
更新日期:2015-09-01 00:00:00
abstract::Clopidogrel is a widely used antiplatelet agent that irreversibly inhibits platelet P2Y12 ADP receptors after conversion to an active metabolite. There are a number of laboratory tests capable of detecting clopidogrel-induced platelet inhibition and published literature correlates suboptimal clopidogrel response to ad...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.22112
更新日期:2011-12-01 00:00:00
abstract::Leukemic cells from the peripheral blood of 52 patients with acute and chronic leukemias were incubated with 12-0-tetradecanoyl phorbol ester (TPA). Thirty-one cases of lymphocytic leukemia (18 cases of acute lymphoblastic and 13 cases of chronic lymphocytic leukemia), 13 cases of acute nonlymphoblastic (myelo or myel...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830130303
更新日期:1982-11-01 00:00:00
abstract::To clarify the idea that an alteration of the transferrin receptor (TF-R) gene, localized to 3q26, may be of pathogenetic significance in hematological disorders with 3q anomaly, we studied the TF-R systems of erythroblasts from both functional and genetic aspects. The patient described here had refractory anemia with...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830330311
更新日期:1990-03-01 00:00:00
abstract::We report the case of a 59-year-old woman with Durie-Salmon stage IIIB IgGkappa multiple myeloma (MM), who presented 83 days after autologous hematopoietic stem cell transplant (HSCT) with multiple subcutaneous plasmacytomas. These lesions were confined exclusively to sites where the patient had sustained local trauma...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10296
更新日期:2003-04-01 00:00:00
abstract::Therapies engineered to prolong clotting factor protein circulation time, manipulate the balance of pro-coagulant and anti-coagulant proteins, or introduce new genetic material to enable endogenous factor protein production dominate the clinical trial landscape of hemophilia. The availability of clotting factor concen...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.26018
更新日期:2021-01-01 00:00:00
abstract::Variation in bleeding in the perioperative period is a complex and multifactorial event associated with immediate and delayed consequences for the patient and health care resources. Little is known about the complex genetic influences on perioperative bleeding. With the discovery of multiple variations in the human ge...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.21205
更新日期:2008-09-01 00:00:00
abstract::The efficacy of the three common intra- and extragenic polymorphic sites of the factor VIII and IX genes has been examined in the Indian population, with an aim to develop a strategy that would be accurate and informative, yet economical. The approach for hemophilia A carrier detection includes tests for BclI, XbaI, a...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199704)54:4<271::aid-ajh2>
更新日期:1997-04-01 00:00:00
abstract::Sitosterolemia (phytosterolemia) is a rare inherited sterol storage disorder, characterized by significantly elevated plasma levels of plant sterols. The clinical features of sitosterolemia are xanthomas, premature atherosclerosis, arthritis, and, occasionally, liver function impair and hematologic abnormalities. This...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23619
更新日期:2014-03-01 00:00:00
abstract::Various in vitro studies and clinical observations suggest that Fanconi's anemia (FA) patients are unable to detoxify adequately superoxide anions (O2-) released by activated phagocytes. Recent studies have shown that certain lymphokines such as tumor necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma) ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830420211
更新日期:1993-02-01 00:00:00
abstract::The detection and identification of blood group antibodies in patients is crucial for successful allogeneic blood transfusions. Current methods are highly subjective and rely on red blood cells (RBCs), which simultaneously express many blood group antigens, have a short shelf-life, and carry potential biohazard risks....
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(200003)63:3<114::aid-ajh2>
更新日期:2000-03-01 00:00:00
abstract::The clinical features of patients with splenic marginal zone cell lymphoma (SMZCL) have rarely been reported. In the present study, immunological abnormalities, particularly hematological abnormalities, observed in SMZCL were described. Autoimmune hemolytic anemia, immune thrombocytopenia, and appearance of lupus anti...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/(sici)1096-8652(199711)56:3<173::aid-ajh7>
更新日期:1997-11-01 00:00:00
abstract::Primary iron overload encompasses a variety of genetic iron overload syndromes, dominated in frequency by HFE-related, or Type 1 hemochromatosis, for which French diagnostic and therapeutic guidelines have been recently proposed. Differential diagnosis of Type 1 hemochromatosis can be made from both clinical data and ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21071
更新日期:2007-12-01 00:00:00
abstract::Heparin-associated thrombocytopenia with thrombosis (HATT) is fatal in 29% and leads to limb amputation in another 21% of patients. Patients with arterial thrombosis do worse than do those with venous thrombosis alone. Heparin-associated thrombocytopenia is mediated through IgG or IgM immunoglobulin fractions and is b...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830280318
更新日期:1988-07-01 00:00:00
abstract::A case of a patient presenting with idiopathic concurrent erythrocytic and megakaryocytic aplasia is reported. The patient's response to immunosuppressive therapy and her bone marrow pathology clearly suggest an immune mechanism. Based on the lack of suppression of erythroid colony growth, several mechanisms are postu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199601)51:1<68::AID-AJH11>
更新日期:1996-01-01 00:00:00
abstract::Hereditary spherocytosis (HS) is due to different membrane protein defects (i.e., deficiency of spectrin and ankyrin, band 3, or band 4.2). In order to gain new insight into the relationships between band 3 function and proteins associated with the cytoskeleton, we studied erythrocyte anion transport activity in HS ch...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199707)55:3<121::aid-ajh1>
更新日期:1997-07-01 00:00:00
abstract::Achievement of a complete response has been associated with improved outcomes in patients with multiple myeloma. Recently, increasing application of minimal residual disease (MRD) assessment has shown that MRD negativity is a powerful prognostic factor for survival outcomes. We wanted to examine the impact of the poly...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/ajh.25481
更新日期:2019-07-01 00:00:00
abstract::Clinical trials in hemostasis and thrombosis (HT) are needed to guide medical practice and future research. Providing public support for trials that could have the greatest impact on clinical care has been a major challenge. The National Heart, Lung and Blood Institute (NHLBI) convened a State-of-the-Science meeting i...
journal_title:American journal of hematology
pub_type:
doi:10.1002/ajh.22225
更新日期:2012-02-01 00:00:00
abstract::We prospectively treated 46 patients with favorable myelodysplastic syndrome classified as refractory anemia (RA), refractory cytopenia (RC), or refractory anemia with ringed sideroblasts (RARS). These patients received one of two schedules of 13-Cis-Retinoic Acid (low dose 80 mg daily for 6 months vs. high dose 200 m...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1002/ajh.2830480405
更新日期:1995-04-01 00:00:00
abstract::Acute myeloid leukemia (AML) is defined as ≥20% myeloblasts, representing a change from original guidelines where ≤30% blasts were considered as myelodysplastic syndromes (MDS), and 20-29% blasts classified as refractory anemia with excess blasts in transformation (RAEB-T). Whether the diagnostic bone marrow blast per...
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
abstract::In HIV-positive patients with non-Hodgkin lymphoma (NHL), no benefit of adding rituximab to chemotherapy was seen in a randomized controlled trial (RCT). We performed a meta-analysis of prospective studies to ascertain outcomes in HIV-positive NHL patients treated with chemotherapy (chemo) versus rituximab and chemo (...
journal_title:American journal of hematology
pub_type: 杂志文章,meta分析
doi:10.1002/ajh.22275
更新日期:2012-03-01 00:00:00
abstract::Nucleotide sequence analysis of the 5' beta-globin gene flanking region has been carried out for numerous homozygous beta-thalassemia patients with different mutations and of various ethnic backgrounds. Four different rearrangements were found associated with numerous beta-thalassemia mutations. The (AT)X(T)Y repeat m...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830450108
更新日期:1994-01-01 00:00:00
abstract::Recombinant DNA technology and protein engineering are creating hope that we can address ongoing challenges in hemophilia care such as reducing the costs of therapy, increasing the availability to the developing world, and improving the functional properties of these proteins. Technological advances to improve the hal...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.23146
更新日期:2012-05-01 00:00:00