Abstract:
:Studies during the last three decades have enabled the development of detailed molecular insights into the structural basis of altered function in various inherited red cell membrane disorders. This review highlights our current understanding of molecular and mechanistic insights into various inherited red cell membrane disorders involving either altered membrane structural organization (hereditary spherocytosis, hereditary elliptocytosis and hereditary ovalocytosis) or altered membrane transport function (hereditary stomatocytosis). The molecular basis for the vast majority of cases of hereditary spherocytosis, elliptocytosis and ovalocytosis have been fully defined while little progress has been made in defining the molecular basis for hereditary stomatocytosis. Mutations in a number of distinct genes account for hereditary spherocytosis and elliptocytosis, while a single genetic defect accounts for all cases of hereditary ovalocytosis. Based on these molecular insights, a comprehensive understanding of the structural basis for altered membrane function has been developed. Loss of vertical linkage between membrane skeleton and lipid bilayer leads to membrane loss in hereditary spherocytosis, while weakening of lateral linkages between skeletal proteins leads to membrane fragmentation and surface area loss in hereditary elliptocytosis. Importantly, the severity of anaemia in both these disorders is directly related to extent of membrane surface area loss. Splenectomy results in amelioration of anaemia.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
An X,Mohandas Ndoi
10.1111/j.1365-2141.2008.07091.xsubject
Has Abstractpub_date
2008-05-01 00:00:00pages
367-75issue
3eissn
0007-1048issn
1365-2141pii
BJH7091journal_volume
141pub_type
杂志文章,评审abstract::In acute promyelocytic leukaemia (APL), differentiation therapy can be complicated by the development of a differentiation syndrome (DS). Pulmonary infiltration of differentiating leukaemic cells is a key event in the development of DS. Several mediators have been identified that may promote migration and extravasatio...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
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abstract::In a retrospective study, we examined the association between cytomegalovirus (CMV) infection and non-neutropenic fever immediately following autologous peripheral blood stem cell transplantation for a variety of haematological malignancies and solid tumours. Sixty non-neutropenic febrile episodes (41 in CMV-seroposit...
journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章,多中心研究
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journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
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更新日期:2018-06-01 00:00:00