Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model
نویسندگان
چکیده
منابع مشابه
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified CDA. KLF1 is an erythroid transcription factor, and extensive studies in mouse models have shown t...
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Two cases of hemolytic anemia with spherocytosis were investigated. lnspite of chronic hemolysis tl::crc was no radiological changes in flat bones. Management and entity of spherocytosis is discussed m detail in this paper.
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.H j \-I F:RCEI)Es V. h)E TomlaRd; ROSA , ANTON 10 ( )ltTmz .N 1) 1)n mn i.\ 1 R As I 1949, PaIllimig amid his asso(’iatesm demohistrated the existence of Rh abnormal hemoglohili ill the blood of persons suffering froni sickle (‘(‘11 anemia amid correlated its presence with the clinical picture. They showed that sickle cell hemoglobin had different electrophoretic mobility than normal hemoglobi...
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Background: Hereditary spherocytosis (HS) is the highest incidence disease of hemolytic anemia and is characterized by the production of spherocytes red blood cells. To date, a number of mutations in 5 genes have been identified in patients with HS and the mutations in ANK1 gene account for 75% patients. Methods: Whole exome sequencing (WES) was performed in a Chinese HS patient with his parent...
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Spherocytic red cells with reduced membrane surface area are a feature of hereditary spherocytosis (HS) and some forms of autoimmune hemolytic anemia (AIHA). It is generally assumed that membrane loss in spherocytic red cells occurs during their sojourn in circulation. The structural basis for membrane loss in HS is improper assembly of membrane proteins, whereas in AIHA it is due to partial ph...
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ژورنال
عنوان ژورنال: Genomics
سال: 2010
ISSN: 0888-7543
DOI: 10.1016/j.ygeno.2010.07.009