Abstract:
:Deficiency in glucose-6-phosphate dehydrogenase (G6PD) is the most common enzymopathy, and more than 125 different mutations causing G6PD deficiency have been identified. Chronic haemolytic anaemia (CHA) associated with G6PD deficiency is rare, but there is a cluster of mutations causing CHA between amino acids 361-428 which are encoded by exon 10 of the G6PD gene. This region is involved in the dimer formation of the active G6PD enzyme and therefore plays an important role for enzyme stability and activity. Here, we report a 17-year-old patient with CHA, who carries a rare G --> A mutation at nucleotide 1160 which causes an R387H amino acid substitution. We review the reports of the seven previously described patients with this mutation, concluding that G6PD deficiency should be considered as a rare differential diagnosis of chronic haemolytic, non-spherocytic anaemia.
journal_name
Acta Haematoljournal_title
Acta haematologicaauthors
Hundsdoerfer P,Vetter B,Kulozik AEdoi
10.1159/000064749subject
Has Abstractpub_date
2002-01-01 00:00:00pages
102-5issue
2eissn
0001-5792issn
1421-9662pii
aha08102journal_volume
108pub_type
杂志文章,评审abstract::The frequency of chronic lymphocytic leukemia (CLL) varies a great deal from one population to another. We have undertaken to compare the aspects of CLL in Maghreb and Europe through two series of comparable importance, studied during the same period and under similar conditions in Algiers and Amiens. This comparison ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206896
更新日期:1983-01-01 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::The effect of 3 different detergents (Triton X-100, Lubrol WX and Nonidet) on brain thromboplastin was examined and compared with the solubilisation due to deoxycholate. The effect of deoxycholate is superior over that of the other examined detergents. Deoxycholate extracts thromboplastic activity from brain tissue to...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000208068
更新日期:1975-01-01 00:00:00
abstract::96 consecutive acute myelogenous leukemia (AML) patients were analyzed retrospectively with regard to the regimen used for remission induction. 35 patients received daunorubicin for 3 days, cytosine arabinoside and 6-thioguanine for 7 days. 61 were treated with the same regimen but 6-thioguanine was replaced by etopos...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205173
更新日期:1990-01-01 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::In a case of preleukemic dyserythropoiesis, in vitro red cell lysis tests showed a positive acidified serum test whose characteristics are described. The positive acidified serum test occurred in 10 normal sera, in 1 serum with complete deficiency of the fourth component of complement and in 1 serum with complete defi...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207748
更新日期:1978-01-01 00:00:00
abstract:BACKGROUND/AIMS:The aim of this work was to investigate the efficacy and predictive factors of CLAG treatment in refractory or relapsed (R/R) acute myeloid leukemia (AML) patients. METHODS:Sixty-seven R/R AML patients were enrolled in this prospective cohort study and treated by a CLAG regimen: 5 mg/m2/day cladribine ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000493250
更新日期:2019-01-01 00:00:00
abstract::In the chronic wound, the normal cascade of inflammation, granulation and reconstruction phases of healing is interrupted. Cytokines are now known to orchestrate different biochemical mediators resulting in the restoration of the healing phases. Growth factors may play a significant role in stimulating wound repair by...
journal_title:Acta haematologica
pub_type: 杂志文章,评审
doi:10.1159/000040833
更新日期:1998-01-01 00:00:00
abstract::This paper reports the bone marrow histological picture in 7 patients with hairy cell leukemia treated with recombinant interferon. Bone marrow biopsies were performed at diagnosis, after 1, 3 and 7 months from the beginning of treatment and at 12 months at treatment suspension. The main modifications observed were a ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205996
更新日期:1987-01-01 00:00:00
abstract::The present report describes a patient with polycythemia vera who developed a severe arterial and venous thrombosis caused by systemically administered heparin. An immunologic implication has been proposed as pathophysiological mechanism of this heparin-associated thrombocytopenia and thrombosis syndrome. It is sugges...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204883
更新日期:1991-01-01 00:00:00
abstract::Iron overload due to regular transfusions of packed red cells can cause multiple organ damage. Iron chelation therapy (ICT) is important in patients with aplastic anemia (AA) who require blood transfusions as supportive management. With the introduction of the oral iron chelator deferasirox, ICT has become more widely...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000342772
更新日期:2013-01-01 00:00:00
abstract::Micromegakaryocytes (MMK) were defined morphologically by the cell area, nucleus form and cytoplasmic structure. Bone marrow smears of 7,156 patients were retrospectively analyzed. MMK were found most frequently and abundantly in acute non-lymphatic leukaemia, chronic myeloid leukaemia and pre-leukaemia. The presence ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207213
更新日期:1980-01-01 00:00:00
abstract::Fibroblast-like cells were grown from the bone marrow of acute lymphoblastic leukemia (ALL) patients before, during and off therapy. A diminished growth capacity was observed in cells from patients before and during therapy. In the three groups studied, differences were also observed in the effect of hydrocortisone on...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206284
更新日期:1985-01-01 00:00:00
abstract::A 16-year-old Japanese woman with acute myelogenous leukemia (AML) and t(6;9) received peripheral blood stem cell transplantation (PBSCT). Although chromosomal studies just prior to and following PBSCT showed a normal karyotype, reverse transcription-polymerase chain reaction (RT-PCR) detected the mRNA derived from th...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000203996
更新日期:1995-01-01 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::Transient regression in the lymphocyte count of a patient with B-cell chronic lymphocytic leukemia (B-CLL) after viral infection is reported. A similar event occurred under natural interferon-alpha (IFN-alpha) treatment. It was confirmed that the event was not caused by a direct cytotoxic effect of IFN-alpha by analyz...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000204091
更新日期:1995-01-01 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::In 83 children with acute lymphoblastic leukaemia (ALL) the immunological phenotype of the lymphoblasts was determined using E rosetting, monoclonal anti-T cell sera, surface immunoglobulin staining and common ALL antiserum. The data were compared with acid alpha-naphthyl acetate esterase (ANAE) and acid phosphatase (...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206835
更新日期:1983-01-01 00:00:00
abstract::Iron overload is a constant and the more important complication in thalassemia. Serum ferritin concentration accurately reflects body iron stores. A total of 245 thalassemic patients aged 12-55 years were examined, 71 having Hb H disease and 174 beta-thalassemia/Hb E disease. The patients received minimal or no blood ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207129
更新日期:1981-01-01 00:00:00
abstract::Allogeneic stem cell transplantation (SCT) is the treatment of choice for selected patients with chronic myeloid leukemia (CML). However, it is associated with a high risk of treatment-related mortality (TRM) and morbidity. To assist in decision making about transplantation, a simple scoring system to assess the risk ...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000069283
更新日期:2003-01-01 00:00:00
abstract::Platelet aggregation in citrated and heparinized plasma by ionophore A 23187 and Ristocetin was studied in normal subjects and in patients with von Willebrand's disease and congenital afibrinogenemia. Aggregation by ionophore was normal in all groups both in citrated and heparinized plasma. Aggregation by Ristocetin i...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000207932
更新日期:1976-01-01 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::Human urinary erythropoietin has been purified to homogeneity. The seven-step procedure yielded a preparation with a potency of 225,000 U/mg protein. SDS-polyacrylamide gel electrophoretic analysis of the purified hormone revealed a single protein band with a molecular weight of about 35,000 that migrated with the bio...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205057
更新日期:1990-01-01 00:00:00
abstract::A 13-year-old Saudi girl presented with severe clinical features of systemic lupus erythematosus of 3 months' duration. In addition to laboratory evidence of the disease, the patient was found to have pancytopenia and myelofibrosis. While pancytopenia was considerably improved by steroids, myelofibrosis was not revers...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000205641
更新日期:1988-01-01 00:00:00
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::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::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::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::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::Platelet to leukocyte adhesion phenomena (PLAP) and the phagocytosis of platelets by neutrophils from the EDTA anticoagulated blood samples are described. PLAP was transferable to a normal blood specimen by patient's plasma or serum with or without complement. Further studies revealed in vitro evidence of hereditary p...
journal_title:Acta haematologica
pub_type: 杂志文章
doi:10.1159/000206966
更新日期:1982-01-01 00:00:00