Abstract:
:With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS.
journal_name
Acta Haematoljournal_title
Acta haematologicaauthors
He BJ,Liao L,Deng ZF,Tao YF,Xu YC,Lin FQdoi
10.1159/000486229subject
Has Abstractpub_date
2018-01-01 00:00:00pages
60-66issue
1eissn
0001-5792issn
1421-9662pii
000486229journal_volume
139pub_type
杂志文章,评审abstract::Neurologic complications of allogeneic hematopoietic cell transplantation (allo-HCT) include infections, cerebrovascular events, therapy-induced neurotoxicity, recurrent malignancies, and neurologic manifestations of graft-versus-host disease (GVHD). Anti-glutamic acid decarboxylase (GAD) antibody-associated cerebella...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000494423
更新日期:2019-01-01 00:00:00
abstract::Janus kinases are critical components of signaling pathways that regulate hematopoiesis. Mutations of the non-receptor tyrosine kinase JAK2 are found in many BCR-ABL-negative myeloproliferative neoplasms. Preclinical results support that JAK2 inhibitors could show efficacy in treating chronic myeloproliferative neopla...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000356784
更新日期:2014-01-01 00:00:00
abstract::We have studied the amount and intracellular distribution of erythroblastic alkaline and acid phosphatase, nonspecific esterase, and N-acetyl-beta-glucosaminidase in 50 patients with acquired dyserythropoiesis. 19 morphologically normal bone marrow smears served as controls. Alkaline phosphatase was found in all contr...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206406
更新日期:1984-01-01 00:00:00
abstract::von Willebrand disease (VWD) type 2M is a distinct entity and clearly differs from type 1. The genotype-phenotype correlation for cases with ristocetin cofactor activity (RCo)/antigen (Ag) ratios <0.60 is clear, whereas the von Willebrand factor (VWF):collagen binding (CB)/VWF:Ag ratio is normal in VWD 2M. Typical lab...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000214854
更新日期:2009-01-01 00:00:00
abstract::A case of steroid-resistant acquired pure red-cell aplasia associated with a relative and absolute increase of TG cells is described. Removal of T cells enhanced erythroid colony and burst formation in vitro, and it is suggested that TG cells may be implicated in the pathogenesis of this case of acquired pure red-cell...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207191
更新日期:1981-01-01 00:00:00
abstract::Systematic reviews and meta-analyses have made a major contribution to the evidence-based management of infections in cancer patients. We review the contribution of systematic reviews with regard to antibiotic, antifungal, antiviral and Pneumocystis pneumonia prophylaxis; antibiotic and antifungal treatment of febrile...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000318900
更新日期:2011-01-01 00:00:00
abstract::2 fatal cases of graft-versus-host disease (GvHD) occurred following blood product transfusions given to patients receiving standard chemotherapy for Hodgkin's disease. GvHD was established by HLA typing, clinical course, and compatible skin biopsy. 23 cases of GvHD following transfusion of blood products from normal ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206599
更新日期:1984-01-01 00:00:00
abstract::We describe a case of hemolytic anemia with subacute bacterial endocarditis due to Streptococcus sanguis. The major hematological features of the patient were a normocytic anemia with reticulocytosis, an elevation of serum lactate dehydrogenase, and a marked reduction of serum haptoglobin. All these signs of hemolytic...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000203981
更新日期:1995-01-01 00:00:00
abstract::A new variant of red cell glucose-6-phosphate dehydrogenase (G6PD) has been found in a Caucasian man with congenital non-spherocytic haemolytic anaemia. This variant has reduced activity, increased thermolability, increased Michaelis constants for glucose-6-phosphate and NADP, slightly increased electrophoretic mobili...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207869
更新日期:1977-01-01 00:00:00
abstract::An increased bone marrow (BM) apoptosis is one of the mechanisms responsible for the ineffective hematopoiesis of myelodysplastic syndromes (MDS). It is controversial whether the excessive apoptosis in myelodysplasia predominantly involves the subset of progenitor cells or of maturing cells. We investigated the degree...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000067275
更新日期:2003-01-01 00:00:00
abstract::The detection of cellular antigens in bone marrow sections depends on the method of embedding, the nature of antigen and antibody, antigen retrieval techniques and the sensitivity of the immunohistochemical method. This study evaluated a fluorescyl-tyramide-enhanced immunostaining method on methyl-methacrylate-embedde...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000097458
更新日期:2007-01-01 00:00:00
abstract::All-trans-retinoic acid (ATRA) combined with anthracyclines is currently the standard treatment for acute promyelocytic leukemia (APL). In elderly patients the presence of comorbidities, such as cardiomyopathy or different organ failures, often represents an absolute contraindication to standard chemotherapy. In this ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000097880
更新日期:2007-01-01 00:00:00
abstract::The short-term effect of a domestically produced equine antithymocyte globulin (ATG) was analyzed in 6 patients with acquired severe aplastic anemia (AA). All patients received 5 doses of ATG every other day in a 60-min intravenous infusion. Five peripheral blood immunoregulatory mononuclear cell (MNC) subsets, define...
journal_title:Acta haematologica
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000205557
更新日期:1989-01-01 00:00:00
abstract::The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) tyrosine kinase gene on chromosome 8p11-12. A new case of a 9-year-old boy with leukocytosis, eosinophilia, and general lymphadenopathy is reported i...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000481392
更新日期:2018-01-01 00:00:00
abstract::Three consecutive patients considered to have end-stage acquired aplastic anaemia were given 100-160 mg/kg antilymphocyte globulin (ALG) i.v. followed by an infusion of 2-3.8 x 10(8) nucleated marrow cells/kg i.v. from HL-A one haplotype-identical, MLC-positive family donors. All patients showed autologous marrow reco...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000208005
更新日期:1976-01-01 00:00:00
abstract::At our hospital, 47 out of 184 consecutive splenectomies performed over 7 recent years were carried out on patients afflicted with various hematologic diseases. The results of these 47 splenectomies were the subject of a careful retrospective analysis. The majority of the splenectomies (81%) were therapeutic. Cytopeni...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205947
更新日期:1987-01-01 00:00:00
abstract::The fibrinolytic response to surgical trauma was studied longitudinally in 7 pigs by measuring the fibrinolytic activity in the blood and vein wall simultaneously. The results indicated a marked suppression in fibrinolytic activity in the blood which was closely correlated with the activity in the vein wall. This corr...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207397
更新日期:1980-01-01 00:00:00
abstract::The maturation process of leukemic myelomonocytoid cells derived from peripheral blood of two typical cases of chronic myelomonocytic leukemia was investigated in vitro. In both cases, liquid culture of the leukemic cells in the presence or absence of 12-o-tetradecanoyl phorbol-13-acetate yielded either monocyte-macro...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206382
更新日期:1984-01-01 00:00:00
abstract::Haemoglobin synthesis was studied in bone marrow erythroblasts and in reticulocytes of 4 children with beta O-thalassaemia major and of 7 children with beta +-thalassaemia major. In patients with beta O-thalassaemia the gamma/a ratio was found to be lower in bone marrow than in peripheral blood. On the contrary, in pa...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207174
更新日期:1981-01-01 00:00:00
abstract::Acute myelogenous leukemia (AML) of the inbred Wistar/Furth (W/Fu) rat is pathophysiologically similar to human AML. Subcutaneous transplantation of 1.0 X 10(6) cells of a clonal tissue culture line of W/Fu AML into 6- to 8-week-old rats produced local myeloblastomas in 8--10 days which progressed to infiltration of r...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207886
更新日期:1977-03-01 00:00:00
abstract::The plasminogen activator content of a vein wall has been measured by estimating the radio-activity released from a 125I-tagged fibrin clot by incubating that clot with a known weight of the vein wall. This method could be used in the investigation of the fibrinolytic system of the body in its normal distribution and ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207720
更新日期:1978-01-01 00:00:00
abstract::A 69-year-old woman with typical thrombotic thrombocytopenic purpura is reported, who was treated successfully by plasma exchange. An initial chromosomal analysis of peripheral blood lymphocytes revealed abnormal patterns of 45, XO/46, XX/47, XXX; a second analysis showed 45, XO/46, XX/47, XXX/47, XX + 21, and a third...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205068
更新日期:1990-01-01 00:00:00
abstract::Hemochromatosis has generally been considered to be a genetic disease in which progressive iron accumulation over many years can lead to cirrhosis of the liver, hepatocellular carcinoma, diabetes, cardiomyopathy, and arthropathy. Iron depletion by phlebotomy has been the recommended therapy although a randomized trial...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000243797
更新日期:2009-01-01 00:00:00
abstract::In a dose titration study we tested the efficacy and tolerance of recombinant human erythropoietin (rhEPO) in 10 patients with myelodysplasia (MDS) and 2 patients with idiopathic myelofibrosis. Patients with a haemoglobin level < 100 g/l were treated as out-patients for 12 weeks with daily doses ranging from 30 U/kg b...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204378
更新日期:1993-01-01 00:00:00
abstract::Drug-induced immune hemolytic anemia is a rare but underdiagnosed and potentially fatal condition. We report a case of severe hemolytic anemia induced by cefoxitin in a 45-year-old woman admitted with menometrorrhagia. Hemoglobin levels reached a nadir of 4.7 g/dl approximately 72 h after cefoxitin initiation, and hem...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000320169
更新日期:2010-01-01 00:00:00
abstract::Fetal liver transplantation was attempted in 7 patients with aplastic anemia. 4 of these patients showed a partial response as evidenced by decrease in blood transfusion requirements and increase in the peripheral blood counts and hematopoietic cells in the bone marrow. Bone marrow culture studies revealed evidence of...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207558
更新日期:1979-01-01 00:00:00
abstract::An improved plasma clot culture method for CFU megakaryocytes (MK) has been developed with a higher plating efficiency and easier identification and enumeration of MK colonies by an indirect immunoperoxidase staining using a monoclonal antibody specific to the platelet glycoprotein IIb/IIIa complex. This technique has...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205837
更新日期:1987-01-01 00:00:00
abstract::During a screening for hemoglobinopathies, we found a carrier of the Sardinian δβ-thalassemia condition. The proband's hematology and hemoglobin (Hb) profile agreed with those of the other carriers previously identified during our diagnostic program except for the fetal Hb (HbF) composition, which consisted of both α2...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000447942
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Despite encouraging reports concerning the declining prevalence of iron deficiency, this easily preventable disorder is still an existing problem in presumably developed regions. OBJECTIVE:To evaluate the prevalence of iron deficiency and relevant anemia in children residing in Northern Greece and to study ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000098273
更新日期:2007-01-01 00:00:00
abstract::It has been suggested that CD44 mediates adhesive interactions between hematopoietic progenitor cells and the stromal microenvironment. Ligands of CD44 include several extracellular matrix components, such as hyaluronic acid and fibronectin. Antibodies against CD44 have been shown to induce homotypic T cell aggregatio...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000203886
更新日期:1996-01-01 00:00:00