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 (delta beta)(0) thalassemia has a deletion of about 30 kb. The 5' breakpoint of this deletion starts approximately 1.5 kb downstream of an enhancer-like sequence of the A gamma-globin gene. The 3' endpoint is located in the L1 repeat sequence (Kpnl site) 3' to the beta-globin gene. The new deletion (Turkish type 3) is quite similar to that of the Indian (delta beta)(0)-thalassemia deletion in size and 5' breakpoint. However, the 3' endpoint in this new deletion is 2.5 kb shorter than the Indian type.
journal_name
Acta Haematoljournal_title
Acta haematologicaauthors
Oner R,Oner C,Erdem G,Balkan H,Ozdağ H,Erkan M,Gümrük F,Gürgey A,Altay Cdoi
10.1159/000203790subject
Has Abstractpub_date
1996-01-01 00:00:00pages
232-6issue
4eissn
0001-5792issn
1421-9662journal_volume
96pub_type
杂志文章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::Gene therapy targeting hematopoietic cells has arrived at a new stage of potency. While the potential for curing inherited disorders of the immune system has been demonstrated in clinical trials, we were also confronted with the first serious adverse events related to random insertion of foreign DNA into cellular chro...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000072459
更新日期:2003-01-01 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::The dilution in the circulating blood of lymphocytes lablled in vitro with 3H-cytidine was examined after autotransfusion in 9 patients with Hodgkin's disease (HD) stage II A-IV B, 5 of whom were untreated; in 2 untreated patients with carcinoma, and in 1 treated patient with scleroderma. The blood transit time of exc...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000208185
更新日期:1975-01-01 00:00:00
abstract:BACKGROUND/AIMS:Autophagy is crucial for the survival and function of plasma cells including protection from toxic misfolded immunoglobulin and proper energy metabolism. Multiple myeloma (MM) is an indolent but eventually fatal neoplasm of plasma cells. Autophagy may play a critical role in the survival of MM cells and...
journal_title:Acta haematologica
pub_type: 临床试验,杂志文章
doi:10.1159/000368848
更新日期:2015-01-01 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
abstract::A 44-year-old Japanese male having refractory anemia with excess of blasts (RAEB) preceding acute myelomonocytic leukemia (AMMoL) with dysplastic marrow eosinophilia (M4Eo in the FAB classification) is reported. Sequential cytogenetic studies revealed a specific chromosomal abnormality, inv(16) (p13q22), when RAEB was...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205368
更新日期:1989-01-01 00:00:00
abstract::In a comparison of 47 patients with Philadelphia-chromosome (Ph)-positive chronic myeloid leukemia (CML) in the Nagasaki University School of Medicine and 64 patients with the same disease in the Roswell Park Memorial Institute, the correlation between the modal number of chromosomes and the therapeutic response and/o...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204713
更新日期:1992-01-01 00:00:00
abstract::Contamination of autologous graft by tumor, in addition to incomplete tumor eradication, can partly explain why relapse remains the commonest cause of treatment failure after autologous stem cell transplantation (ASCT) in patients with malignant hematologic disorders. Monitoring of minimal residual disease (MRD) is no...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000088411
更新日期:2005-01-01 00:00:00
abstract::10 patients with paroxysmal nocturnal hemoglobinuria were studied taking 109 normal subjects of the Cuban population as control group. 26 HLA antigens corresponding to loci A and B were studied in both groups. Phenotypical frequency of both groups were compared. No statistically significant increase was found for any ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207369
更新日期:1980-01-01 00:00:00
abstract::A rare case of Hodgkin's disease which initially presented with a thyroid tumor in an 18-year-old-man is reported. The tumor involved most of the thyroid gland but was well demarcated, and the border between the tumor and the remnants of the thyroid gland was relatively clear, suggesting secondary Hodgkin's disease in...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000203627
更新日期:1997-01-01 00:00:00
abstract::We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient with severe kidney disease using a new reverse-transcription polymerase chain reaction (RT-PCR) technique with mRNA as starting template. The procedure requires considerably less time than sequencing of genomic DNA and is...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204121
更新日期:1995-01-01 00:00:00
abstract::Two unrelated patients with Bernard-Soulier syndrome and their relatives were studied. The patients demonstrated severe bleeding diathesis, the relatives were asymptomatic. The propositi showed the characteristic abnormalities of the syndrome: thrombocytopenia, a percentage of giant platelets higher than 65%, prolonge...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206125
更新日期:1986-01-01 00:00:00
abstract::A 3-year-old child developed severe aplastic anaemia following hepatitis A. Since no HLA-compatible donor was available, he was treated with oxymetholone, antithymocytic globulin and methylprednisolone, but no haematologic recovery was observed and he consequently died of pneumonia. Although the association of aplasti...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206061
更新日期:1986-01-01 00:00:00
abstract::A 61-year-old Japanese man was referred to our hospital in 2002 due to severe pancytopenia. Bone marrow and peripheral blood findings indicated he had severe aplastic anemia (AA). A whole-body CT scan and Ga scintigraphy revealed no abnormal findings. Antithymocyte globulin and cyclosporine A (CyA) were administered a...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000209225
更新日期:2009-01-01 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::Essential thrombocythemia (ET), one of the chronic myeloproliferative disorders, is a clonal disorder of multipotent stem cells. Although most patients with ET have a prolonged benign course, a minority of patients may develop a blastic crisis similar to chronic myelogenous leukemia (CML). A case of ET terminating in ...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000204260
更新日期:1994-01-01 00:00:00
abstract::In 34 patients with chronic lymphatic leukaemia (CLL) the lymphocytes have been separated and sized using a C1000 Channelyzer. The modal volume and the volume range of the populations have been obtained and related to clinical stage and mouse red blood cell (MRBC) rosetting capacity. Over 1 year's observation with sev...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206714
更新日期:1983-01-01 00:00:00
abstract::Platelet functions were evaluated in 20 healthy pregnant women in the last months of pregnancy, during labor, and 5-12 weeks after labor. The results showed an increased platelet count, bleeding time and nitroblue tetrazolium (NBT) test, as well as an increased plasma calcium level postlabor. ADP- and epinephrine-indu...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207151
更新日期:1981-01-01 00:00:00
abstract::Two subjects, not previously reported in detail, had severe inherited deficiencies of erythrocyte pyrimidine nucleotidase. This was manifested hematologically by moderate hemolytic anemia with splenomegaly, morphologically by punctate basophilic stippling of Wright's stained erythrocytes, and biochemically by intraery...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207413
更新日期:1980-01-01 00:00:00
abstract::We describe a B cell chronic lymphocytic leukemia/lymphoma (B-CLL) patient with an adrenocortical adenoma. He was treated initially with oral cyclophosphamide and prednisolone for 2 months, followed by low-dose prednisolone for an additional 2 years, which resulted in the prompt disappearance of CLL cells. After a per...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000203692
更新日期:1997-01-01 00:00:00
abstract::The activity of gamma-glutamyl transpeptidase was investigated in normal and leukemia leukocytes. Enzyme activity was positively correlated with the proportion of mature neutrophils and monocytes. In isolated leukocytes from patients with acute myeloid leukemia low values were obtained compared to controls. ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207384
更新日期:1980-01-01 00:00:00
abstract::High-dose gammaglobulin therapy for patients with idiopathic thrombocytopenic purpura (ITP), introduced by Imbach et al., was applied to 5 adults with chronic refractory ITP to investigate the mechanism of the increase in platelet counts. In 4 of the 5 cases, transient increase in platelet count was observed. Platelet...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206927
更新日期:1983-01-01 00:00:00
abstract::Interferon-alpha has been used as standard therapy for patients with Philadelphia-positive chronic myeloid leukemia (CML) for more than 20 years. Recently randomized trials have shown a superiority of the tyrosine kinase inhibitor imatinib in respect to its efficacy to induce complete hematological and cytogenetic rem...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000089476
更新日期:2006-01-01 00:00:00
abstract::Recently, the use of novel targeted drugs has changed the treatment paradigms in chronic lymphocytic leukemia (CLL). Among the several drugs used for the management of relapsed/refractory (R/R) CLL, Bruton tyrosine kinase inhibitors (ibrutinib and acalabrutinib), phosphatidylinositol 3-kinase inhibitors (idelalisib an...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000510768
更新日期:2020-11-25 00:00:00
abstract::Granulocytic sarcoma of the small intestine preceding or as the presenting feature of acute myelogenous leukemia with chromosome 16 abnormalities has been observed in at least 4 patients. We report the case of a patient initially diagnosed with eosinophilic gastroenteritis, responding to corticosteroid treatment for 2...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000079729
更新日期:2004-01-01 00:00:00
abstract::The immunological phenotypes of lymphocytes and myeloma cells in 48 patients with multiple myeloma (MM) were analyzed using a panel of monoclonal antibodies (mAbs). Myeloma cells were positive for OKT10, BL3, PCA1 and BA2. In a few cases, they were also positive for the B cell-associated antigens J5, B1 and I2. Eight ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205187
更新日期:1990-01-01 00:00:00
abstract::Recently, a factor was discovered in the serum of hepatectomized animals which was capable of augmenting the hepatic erythropoietin response to hypoxia when injected into normal rats. This substance was localized in the liver via an in situ perfusion technique and was termed the hepatic erythropoietic factor (HEF). Pa...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206884
更新日期:1983-01-01 00:00:00
abstract::Immunologic abnormalities have been described in patients with Hodgkin lymphoma, including autoimmune hemolytic anemia and immune thrombocytopenic purpura. The concurrent diagnoses of Hodgkin lymphoma and acquired aplastic anemia, however, is extremely rare. We report a 56-year-old Japanese female patient with severe ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000100038
更新日期:2007-01-01 00:00:00
abstract::Premature neonates require blood transfusions, and biological parents may wish to be directed donors. Biological mothers pose a potential danger because their plasma may contain antibodies that will react with blood cell antigens inherited by the infant from the father. We studied 25 healthy, pregnant women at the tim...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204889
更新日期:1991-01-01 00:00:00