Abstract:
:This relatively rare group of disorders may cause quite marked morbidity and occasionally be life-threatening. As their inheritance is largely known accurate information in one family member has obvious benefits to other family members as well as the patient. The identification of the defect is dependent on an accurate clinical story which can be used to guide both the use and the interpretation of the various laboratory tests available. From the clinical aspect the enzymopathies can be divided into various broad groups. First, those involving the main glycolysis which produces the red cell's energy requirements in the form of ATP. Defects of this pathway generally cause a non-spherocytic haemolytic anaemia. Second, those involving the pentose phosphate shunt which maintains the redox potential of the cell necessary for its protection against oxidant stress. The commonest enzyme deficiency world wide, G6PD, is in this pathway and is characterized by stress-induced haemolytic crises. Third, defects of the various linked reactions. The most important of these are the methaemoglobin reductases which catalyse the reduction of methaemoglobin to functional haemoglobin and the enzymes in the Rapoport-Luebering shunt which can modulate the 2,3-DPG level. Whilst defects of these metabolic pathways make up the majority of cases associated with haemolysis, defects of other enzymes, on the whole less critical to the red cell's survival, must occasionally be considered. The red cell, because of its relatively easy availability, can be used as a 'biopsy tool' in the diagnosis of some systemic disorders in which the red cell enzymopathy is not the main feature of the disease. Such considerations are particularly important owing to the technological advances that have occurred in the last 10-15 years which have enabled correct assignment of an increased number of difficult cases. Not only is it possible to characterise the variant enzymes more accurately but it is now possible to have a 'metabolic window' on the red cell and examine it for the derangements of metabolism that characterise the various enzyme deficiencies.
journal_name
Blood Revjournal_title
Blood reviewsauthors
Lestas AN,Bellingham AJdoi
10.1016/0268-960x(90)90042-qsubject
Has Abstractpub_date
1990-09-01 00:00:00pages
148-57issue
3eissn
0268-960Xissn
1532-1681pii
0268-960X(90)90042-Qjournal_volume
4pub_type
杂志文章,评审相关文献
BLOOD REVIEWS文献大全abstract::For the majority of patients presenting with early Hodgkin's disease, the chance of death due to their disease is related to prognostic factors, e.g. age, systemic symptoms, ESR bulk, number of sites of disease, histology, haemoglobin, lymphocyte count etc. More than 50% of those with Stage I and IIA disease fall into...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/0268-960x(91)90011-z
更新日期:1991-12-01 00:00:00
abstract::We are often faced with the question as to the optimum duration of secondary prophylaxis with oral anticoagulants after an episode of venous thromboembolism. Theoretically if we know the recurrence rate, the case-fatality, the effectiveness of oral anticoagulant therapy, and the rate of fatal haemorrhage on treatment,...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2005.09.001
更新日期:2006-05-01 00:00:00
abstract::Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome and not an independent disease. HLH represents the extreme end of a severe uncontrolled hyperinflammatory reaction that can occur in many underlying conditions. Genetic forms of HLHs are due to defects in transport, processing an...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2014.03.002
更新日期:2014-07-01 00:00:00
abstract::Reactivation of fetal hemoglobin (HbF) expression is an important therapeutic option in patients with hemoglobin disorders. In sickle cell disease (SCD), an increase in HbF would interfere with the polymerization of sickle hemoglobin while in beta-thalassemia, an increase in gamma-globin chain synthesis would decrease...
journal_title:Blood reviews
pub_type: 杂志文章
doi:10.1016/j.blre.2006.01.002
更新日期:2006-07-01 00:00:00
abstract::Methaemoglobinaemia arises from the production of non-functional haemoglobin containing oxidised Fe(3+) which results in reduced oxygen supply to the tissues and manifests as cyanosis in the patient. It can develop by three distinct mechanisms: genetic mutation resulting in the presence of abnormal haemoglobin, a defi...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2004.02.001
更新日期:2005-03-01 00:00:00
abstract::A working diagnosis of essential thrombocythemia (ET) is made in the presence of nonreactive thrombocytosis and after the exclusion of another chronic myeloid disorder that may mimic ET in its presentation. Clinically, ET is characterized by vasomotor symptoms, thrombohemorrhagic complications, recurrent fetal loss, a...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1054/blre.2001.0158
更新日期:2001-09-01 00:00:00
abstract::In patients with hemophilia, osteoporosis is frequently observed for which the etiology remains unclear. The aim of this paper is to review the available experimental evidence indicating the presence of this disorder in patients with hemophilia, explore the potential mechanisms which may lead to reduced bone mineral d...
journal_title:Blood reviews
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.blre.2018.05.002
更新日期:2019-01-01 00:00:00
abstract::This review sets out to synthesize and critically evaluate the current reported data regarding therapeutic options for the neutropenia associated with Felty syndrome (Felty neutropenia). A MEDLINE search and bibliographies from recent reviews were used to identify trials and case reports that provided sufficient data ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/s0268-960x(96)90024-7
更新日期:1996-09-01 00:00:00
abstract::The myeloproliferative neoplasms (MPNs) encompass a heterogenous set of diseases that have variable survival, but in the setting of treatment refractory and progressive disease, prognosis has been characteristically poor. JAK inhibition with ruxolitinib or fedratinib therapy has become the first line treatment for sym...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2020.100716
更新日期:2020-07-01 00:00:00
abstract::Cytogenetic analyses in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) have revealed a great number of non-random chromosome abnormalities. In many instances, molecular studies of these abnormalities identified specific genes implicated in the process of leukemogenesis. The more common chromosome ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/S0268-960X(03)00040-7
更新日期:2004-06-01 00:00:00
abstract::Current trends in the treatment of patients with Stages I and II Hodgkin's disease are discussed in this review. Recommendations for staging procedures and the updated staging classification are described. Long-term results with extended field radiation therapy overall and in subgroups of patients are detailed. As fol...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/0268-960x(93)90022-v
更新日期:1993-03-01 00:00:00
abstract::The term epigenetics defines a heritable alteration in gene expression without an accompanying change in primary DNA sequence. Two major mechanisms that foster epigenetic changes are DNA methylation at cytosine bases within a CpG dinucleotide and post-translational histone modifications. Disruption of the balanced epi...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2005.01.006
更新日期:2006-01-01 00:00:00
abstract::Nearly 20 years after murine embryonic stem cells (mESC) were isolated, the first report of the derivation of human embryonic stem cells (hESC) in 1998 spawned the field of hESC research [Evans MJ, Kaufman MH, Establishment in culture of pluripotential cells from mouse embryos. Nature 1981; 292 (5819): 154-6; Thomson ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2005.01.005
更新日期:2005-11-01 00:00:00
abstract::Red blood cell (RBC) alloimmunization is a serious complication of blood transfusions, challenging selection of compatible units for future transfusions. Genetic characteristics may be associated with the risk of RBC alloimmunization and may therefore serve to identify high-risk patients. The aim of this systematic re...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2020.100794
更新日期:2021-01-05 00:00:00
abstract::Hepatic veno-occlusive disease (VOD) is a major cause of morbidity and mortality following high dose cytotoxic therapy for stem cell transplantation (SCT). Pre-existing liver damage, SCT-related therapy, and genetic polymorphisms all appear to increase the risk of developing VOD. Studies of biological markers during S...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/s0268-960x(03)00002-x
更新日期:2003-06-01 00:00:00
abstract::Extramedullary disease of multiple myeloma (EM) remains a treatment challenge even in the era of new drugs. While many reports analyzing various aspects of EM have been published, mechanism of EM development has not been clarified yet. This review summarizes current knowledge about this clinical entity, including its ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2019.04.002
更新日期:2019-07-01 00:00:00
abstract::The improvement in supportive care and the introduction of new therapeutic agents, including lenalidomide and hypomethylating agents, in myelodysplastic syndromes have improved patients' outcomes; however, at the same time, the frequency and epidemiology of infections have changed. Therefore, the great strides in the ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2018.10.002
更新日期:2019-03-01 00:00:00
abstract::Allogeneic stem cell transplantation (alloSCT) is the treatment of choice in the majority of young patients with advanced stages MDS if they have a suitable donor. Since outcome of transplantation is superior for patients with a low blast percentage, this supports the use of chemotherapy prior to transplantation in pa...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2006.03.002
更新日期:2007-01-01 00:00:00
abstract::Hemophagocytic syndromes (hemophagocytic lymphohistiocytosis, HLH) represent a severe hyperinflammatory condition with the cardinal symptoms prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Biochemical markers include elevated ferritin and triglyce...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2007.05.001
更新日期:2007-09-01 00:00:00
abstract::After many unsuccessful years of searching, the first pathogenic human retrovirus, the human T-cell leukaemia lymphoma virus (HTLV-I), was reported as recently as 1980 and since that time has been causally linked to the adult T-cell leukaemia lymphoma syndrome. A second HTLV (HTLV-II) isolated shortly afterwards is le...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/0268-960x(88)90010-0
更新日期:1988-12-01 00:00:00
abstract::Cerebral venous thrombosis (CVT) is a condition that can affect all age groups and can often be difficult to diagnose and treat. The difficulties in diagnosis are mainly due to the non-specific presenting features of CVT, which can range from isolated headache and visual or auditory problems, to serious symptoms such ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2014.09.006
更新日期:2015-01-01 00:00:00
abstract::Universal leucocyte depletion has been implemented in the UK and several other European countries as a precautionary measure against the potential risk of transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Leucocyte depletion had previously only been recommended for a relatively small proportion o...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1054/blre.2000.0130
更新日期:2000-09-01 00:00:00
abstract::Anemia is present in over two-thirds of patients with malignant hematological disorders. The etiology of anemia predominates from ineffective erythropoiesis from marrow infiltration, cytokine related suppression, erythropoietin suppression, and vitamin deficiency; ineffective erythropoiesis is further exacerbated by a...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2015.02.001
更新日期:2015-09-01 00:00:00
abstract::Major bacterial infections are most commonly associated with agranulocytosis or an abnormality of immunoglobulins or complement. Occasionally, repeated infections cannot be attributed to these relatively common causes. In such cases, a quantitative abnormality in neutrophil function should be sought. Complete evaluati...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/0268-960x(95)90024-1
更新日期:1995-09-01 00:00:00
abstract::Splenomegaly is a feature of a broad range of diseases, and presents to clinicians in many fields. This review examines the aetiology of splenomegaly in the developed world, and describes a logical approach to the patient with splenomegaly. In some patients, extensive radiological and laboratory investigations will fa...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2008.10.001
更新日期:2009-05-01 00:00:00
abstract::Platelet transfusions are widely used. Prophylactic transfusions are employed in severely thrombocytopenic patients without evidence of bleeding, but no randomized trial data prove the safety or efficacy of this approach. Randomized trials have demonstrated the equivalence of transfusion triggers of 10,000 and 20,000/...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/S0268-960X(03)00057-2
更新日期:2004-09-01 00:00:00
abstract::T cells are implicated in the effective control of chronic myeloid leukemia (CML). Recently, several clinical observations supported by laboratory data, indicate the presence of CML-specific T cells. Many proteins potentially act as leukemia-specific antigens for MHC-restricted cytotoxicity in CML. These include the b...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1054/blre.2000.0127
更新日期:2000-06-01 00:00:00
abstract::Erythropoiesis is a dynamic process regulated at multiple levels to balance proliferation, differentiation and survival of erythroid progenitors. Ineffective erythropoiesis is a key feature of various diseases, including β-thalassemia. The pathogenic mechanisms leading to ineffective erythropoiesis are complex and sti...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/j.blre.2017.10.001
更新日期:2018-03-01 00:00:00
abstract::Factor X circulates as a serine protease which is converted to the active form at the point of convergence of the intrinsic and extrinsic coagulation pathways. Subsequently, the enzymatic species, factor Xa, is involved in macromolecular complex formation with its cofactor factor Va, a phospholipid surface and calcium...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1016/0268-960x(94)90007-8
更新日期:1994-03-01 00:00:00
abstract::Childhood immune thrombocytopenic purpura (ITP) is acute and generally seasonal in nature, suggesting that infectious or environmental agents may trigger the immune response to produce platelet-reactive autoantibodies 4 to 8 weeks following an infection. In general, the patient is well apart from the diffuse bruising ...
journal_title:Blood reviews
pub_type: 杂志文章,评审
doi:10.1054/blre.2001.0177
更新日期:2002-03-01 00:00:00