Abstract:
:Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined. Five β0-thalassemia mutations and a severe β+-thalassemia mutation in trans to the βE gene were identified. No significant difference in hematological parameters was observed among β-thalassemia genotypes. Coinheritance of α-thalassemia was observed in 31 of the 73 subjects (42.5%). Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects. The molecular basis of NTDT in the remaining 3 (4.1%) cases could not be defined. These results indicate multiple genetic factors in NTDT patients and underline the importance of complete genotyping to provide proper management, make clinical predictions, and improve genetic counseling.
journal_name
Acta Haematoljournal_title
Acta haematologicaauthors
Yamsri S,Pakdee N,Fucharoen G,Sanchaisuriya K,Fucharoen Sdoi
10.1159/000449120subject
Has Abstractpub_date
2016-01-01 00:00:00pages
233-239issue
4eissn
0001-5792issn
1421-9662pii
000449120journal_volume
136pub_type
临床试验,杂志文章abstract::Immunoglobulin light chain amyloidosis (AL amyloidosis) is a rare, life-threatening disease characterized by the deposition of misfolded proteins in vital organs such as the heart, the lungs, the kidneys, the peripheral nervous system, and the gastrointestinal tract. This causes a direct toxic effect, eventually leadi...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000507724
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:The treatment of relapsed/refractory (R/R) peripheral T cell lymphoma (PTCL) is limited to a few agents. Romidepsin, a histone deacetylase inhibitor, was approved for PTCL treatment as a single agent in the R/R setting, yet with partial efficacy. Several attempts to combine romidepsin with other chemotherapy...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000498905
更新日期:2019-01-01 00:00:00
abstract::A new deletion of the beta-globin gene cluster was characterized in a Turkish family. A 6-year-old male and his father were heterozygotes for this deletion. They presented with mild hypochromic microcytic anemia associated with elevated Hb F (15%) and normal Hb A2 levels (2.0%). This newly described Turkish type (delt...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000203790
更新日期:1996-01-01 00:00:00
abstract::Granulocytic sarcoma (GS) is a rare extramedullary tumor composed of immature myeloid cells. It is usually associated with leukemia or other myeloproliferative disorders, but can also occur without overt hematologic disease, i.e. in patients with a normal bone marrow and no history of acute myelogenous leukemia. This ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000041067
更新日期:2000-01-01 00:00:00
abstract::Thrombopoietin levels in thrombocytopenic mice assayed by 75Se-se-lenomethionine incorporation into blood platelets reached a maximum 12 h after the induction of an acute, immune thrombocytopenia; that was more than twice the value in control mice. The implications of this finding are discussed with reference to the k...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000208096
更新日期:1975-01-01 00:00:00
abstract::A modified cytochemical method was developed for demonstrating magnesium-activated adenosine triphosphatase in haemic cells. The enzyme was shown in a variety of normal and leukaemic, unfixed cells. The high sensitivity of this enzyme to all fixatives tried in this study hampered further exploration and characterizati...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205983
更新日期:1987-01-01 00:00:00
abstract::In cutaneous T-cell lymphomas (CTCL; mycosis fungoides and Sézary syndrome), the standard therapies tend to be effective but not curative. Single drug therapy with either interferon-alpha or retinoids shows a response rate of about 45%. In this article, we report the results obtained in the treatment of CTCL with a co...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000204582
更新日期:1993-01-01 00:00:00
abstract::The adaptation of cell physiological parameters of erythrocytes of the newborn to erythrocytes in later life was studied by cell separation in an isopycnic dextran density gradient. The cell characteristics during the first trimester of life were followed by repeated determinations. The mean cellular haemoglobin conce...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207034
更新日期:1982-01-01 00:00:00
abstract::Multiple myeloma (MM) is a B cell malignancy characterized by accumulation of plasma cells (PCs) in the bone marrow. Traditional methods for the detection of minimal residual disease (MRD) measure the presence of monoclonal immunoglobulin protein secreted by the malignant PCs. However, changes in the level of MRD in M...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000077565
更新日期:2004-01-01 00:00:00
abstract::Non-Hodgkin's lymphomas are among the most challenging diseases to treat and their course ranges from very aggressive and rapidly fatal tumors to some of the most indolent, well-tolerated malignancies in man. ...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000205923
更新日期:1987-01-01 00:00:00
abstract::A hairy-cell leukaemia (HCL) cell line, HCL-O, was established from the peripheral blood of a 62-year-old Japanese patient with a unique variant of HCL strongly expressing CD21, the receptor for the Epstein-Barr virus (EBV). The HCL-O cells expressed antigens similar and dissimilar to those expressed with the original...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204129
更新日期:1994-01-01 00:00:00
abstract::The first 2 Canadian cases of combinations of Hb D Los Angeles and beta-thalassaemia were found in an Italian family and an East Indian family in Hamilton, Ont. The structure of the Hb D variant was identified by radioimmunoassay. The beta +-thalassaemia trait in the Italian family and the beta o-thalassaemia trait in...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207387
更新日期:1980-01-01 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::We evaluated an enzyme-linked immunosorbent assay (ELISA) for embryonic zeta-globin chains as a routine screening test for (--(SEA)) alpha-thalassemia deletion (SEA deletion). A total of 174 consecutive patient samples with a request for Hb analysis were recruited. The ELISA method was evaluated against a polymerase c...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000063060
更新日期:2002-01-01 00:00:00
abstract::We have retrospectively analyzed a series of 19 patients with hepatitis C virus (HCV) infection and chronic thrombocytopenia not attributable to hypersplenism or to other causes. Antiplatelet antibodies were present in 81% of cases. Response to prednisone was observed in 6 of 7 patients and 1 of 3 patients responded t...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000040842
更新日期:1998-01-01 00:00:00
abstract::Treatment of acute lymphoblastic leukemia is unsatisfactory in adults due to disease and patient-related factors and probably because adult chemotherapy regimens are weaker than pediatric protocols. Worries about inadequacy of adult regimens urged many hematologists, including us, to reconsider their routine treatment...
journal_title:Acta haematologica
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000351172
更新日期:2013-01-01 00:00:00
abstract::A 64-year-old man with multiple sclerosis developed a circulating anticoagulant. Three immunoglobulin fractions (I = IgG; II =IgG+IgA; III = IgM) were separated from patient serum by 33-percent ammonium sulfate precipitation and DEAE-52 cellulose column chromatography. Fractions I (IgG) and II (IgG+IgA) had factor VII...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207993
更新日期:1976-01-01 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::A 77-year-old woman presented to the outpatient hematology clinic in August 2001 with leukocytosis, recurrent bacterial infections, sweating and weight loss. Bone marrow biopsy showed 80% infiltration with lymphoid cells having a prolymphocytic morphology. Flow-cytometric immunophenotype analysis showed that over 80% ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000076527
更新日期:2004-01-01 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:OBJECTIVE:To review the diagnostic significance, safety and possible risk factors of splenectomy in fever of unknown origin (FUO) with splenomegaly. METHODS:The records of 54 patients with FUO and splenomegaly who underwent splenectomy in our hospital in the past 20 years were reviewed retrospectively. Pathologic find...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000118632
更新日期:2008-01-01 00:00:00
abstract::2-Chlorodeoxyadenosine (cladribine, Leustatin) is being used extensively in the treatment of hematologic malignancies, but relatively little is known regarding its toxicity to the normal marrow. Long-term serial hematologic observations have been made on 29 patients with multiple sclerosis undergoing experimental ther...
journal_title:Acta haematologica
pub_type: 临床试验,杂志文章
doi:10.1159/000204236
更新日期:1994-01-01 00:00:00
abstract::The expression of the enzyme marker terminal deoxynucleotidyl transferase (TdT) was examined by immunofluorescence assay in the cells from 333 cases with various types and subtypes of leukemia or lymphoma. More than 90% of cALL and T-ALL, 70% of Null-ALL and 80% of pre-B-ALL were TdT-positive. One case in the commonly...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206072
更新日期:1986-01-01 00:00:00
abstract::A 67-year-old woman with agnogenic myeloid metaplasia, who underwent splenectomy 1 year after the diagnosis, experienced spontaneous hematologic remission 6 years after splenectomy. Ten months before her anemia improved, peripheral leukocytes no longer showed a shift to the left and peripheral erythroblasts had disapp...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205163
更新日期:1990-01-01 00:00:00
abstract::Platelet aggregation in diabetic retinopathy was investigated in a group of 25 patients. An enhanced activity induced by epinephrine and arachidonic acid was found in this group as compared with the controls, whereas in adenosine diphosphate (ADP) platelet aggregation no differences were observed. Spontaneous aggregat...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207695
更新日期:1978-01-01 00:00:00
abstract::Natural killer (NK) cell activity against K562 cell targets and the distribution of T cell subpopulations were investigated in the peripheral blood of 25 patients affected by beta thalassemia major, 18 clinically healthy heterozygotes, and 25 age-matched normal subjects. It was found that thalassemia major patients di...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206598
更新日期:1984-01-01 00:00:00
abstract::Slow intravenous infusion of Na laurate (NaL) into guinea pigs caused a rapid appearance of platelet aggregates in the arterial blood and a precipitous fall in platelet counts. During the infusion of Na arachidonate (NaA) thrombocytopenia developed slowly, and few and smaller platelet aggregates appeared in the arteri...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207864
更新日期:1977-01-01 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::The last few years have seen an enormous increase in our knowledge on the haematopoietic growth factor erythropoietin (Epo), firstly with its purification and determination of its primary amino acid sequence, and more recently with the isolation of the Epo gene and its expression in mammalian cell lines. This review a...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000204826
更新日期:1991-01-01 00:00:00
abstract:BACKGROUND:Our aim is to determine comorbidities associated with pulmonary hypertension (PHT) in clinically stable sickle-cell disease (SCD) patients and to evaluate left ventricular (LV) and right ventricular (RV) function in those patients. METHODS:Echocardiography was performed in 87 SCD patients that were divided ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000102588
更新日期:2007-01-01 00:00:00