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Statements

Subject Item
dbr:Hereditary_elliptocytosis
rdf:type
yago:Condition113920835 yago:WikicatAutosomalDominantDisorders yago:GeneticDisease114151139 yago:PhysicalCondition114034177 yago:Anemia114195315 dbo:Disease yago:HemolyticAnemia114165240 yago:Illness114061805 yago:Disease114070360 yago:WikicatHereditaryHemolyticAnemias yago:IllHealth114052046 yago:State100024720 yago:Dyscrasia114053717 yago:WikicatAnemias yago:Attribute100024264 umbel-rc:AilmentCondition yago:PathologicalState114051917 yago:BloodDisease114189204 yago:BloodDyscrasia114053850 owl:Thing yago:AutosomalDominantDisease114162025 yago:Abstraction100002137 wikidata:Q12136
rdfs:label
Ovalocitose Ellissocitosi ereditaria Eliptocitosis hereditaria Elliptocytose héréditaire Hereditary elliptocytosis كثرة الكريات الإهليلجية الوراثية
rdfs:comment
L'elliptocytose est une affection hématologique rare caractérisée par des anomalies du cytosquelette des hématies qui prennent une forme d'ellipse. Il s'agit d'une maladie génétique à transmission autosomique dominante et résulte d'une mutation des gènes de protéines constituant le cytosquelette des hématies : alpha- ou béta-spectrines par exemple. Les manifestations sont très disparates jusqu'à l'anémie hémolytique. Le diagnostic repose sur l'examen du frottis sanguin qui contient plus de 15 % d'elliptocytes ou ovalocytes (hématies en ellipse). La eliptocitosis hereditaria a una enfermedad hereditaria de la sangre que se caracterizan porque los pacientes presentan unos hematíes o glóbulos rojos de forma elíptica en lugar de circular. Estas células se llaman eliptocitos. Los síntomas son muy variables, pero en las formas graves existe gran predisposición a la existencia de anemia hemolítica. ​ A Ovalocitose é uma doença hereditária na qual os glóbulos vermelhos do sangue, normalmente redondos, assumem uma forma levemente oval ou elíptica. A ovalocitose também é conhecida como hereditária. É associada a anemia hemolítica leve e pode ser tratada com a esplenectomia كثرة الكريات الإهليلجية الوراثية، تُدعَى أيضًا كثرة الكريات البيضوية الوراثية، هي اضطراب دموي موروث يكون فيه عدد كبير غير طبيعي من كريات الدم الحمراء لدى الشخص ذات شكل إهليلجي بدلًا من الشكل القرصي مقعر الوجهين. يُشار أحيانًا إلى هذه الكريات الحمراء المميزة شكليًا بالكريات الإهليلجية أو الكريات البيضوية. إنها إحدى عيوب عديدة في غشاء الكرية الحمراء. في شكله الشديد، يؤهب هذا الاضطراب لحدوث فقر الدم. رغم أنه يُعتبَر حالة مرضية لدى البشر، إلا أن كثرة الكريات الإهليلجية تكون طبيعية لدى الجمليات. Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. Although pathological in humans, elliptocytosis is normal in camelids. L' ellissocitosi ereditaria è una malattia autosomica dominante che causa un'alterazione caratteristica delle emazie. I globuli rossi assumono una forma ovale o ellittica. Tale disordine diventa a sua volta un fattore di rischio elevato per l'anemia emolitica.
foaf:name
Hereditary elliptocytosis
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Hereditary elliptocytosis
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dbp:caption
Peripheral blood smear showing an abundant number of elliptocytes
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dbp:synonyms
Ovalocytosis, elliptocytes, ovalocytes
dbo:abstract
A Ovalocitose é uma doença hereditária na qual os glóbulos vermelhos do sangue, normalmente redondos, assumem uma forma levemente oval ou elíptica. A ovalocitose também é conhecida como hereditária. É associada a anemia hemolítica leve e pode ser tratada com a esplenectomia La eliptocitosis hereditaria a una enfermedad hereditaria de la sangre que se caracterizan porque los pacientes presentan unos hematíes o glóbulos rojos de forma elíptica en lugar de circular. Estas células se llaman eliptocitos. Los síntomas son muy variables, pero en las formas graves existe gran predisposición a la existencia de anemia hemolítica. ​ Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. Although pathological in humans, elliptocytosis is normal in camelids. كثرة الكريات الإهليلجية الوراثية، تُدعَى أيضًا كثرة الكريات البيضوية الوراثية، هي اضطراب دموي موروث يكون فيه عدد كبير غير طبيعي من كريات الدم الحمراء لدى الشخص ذات شكل إهليلجي بدلًا من الشكل القرصي مقعر الوجهين. يُشار أحيانًا إلى هذه الكريات الحمراء المميزة شكليًا بالكريات الإهليلجية أو الكريات البيضوية. إنها إحدى عيوب عديدة في غشاء الكرية الحمراء. في شكله الشديد، يؤهب هذا الاضطراب لحدوث فقر الدم. رغم أنه يُعتبَر حالة مرضية لدى البشر، إلا أن كثرة الكريات الإهليلجية تكون طبيعية لدى الجمليات. L'elliptocytose est une affection hématologique rare caractérisée par des anomalies du cytosquelette des hématies qui prennent une forme d'ellipse. Il s'agit d'une maladie génétique à transmission autosomique dominante et résulte d'une mutation des gènes de protéines constituant le cytosquelette des hématies : alpha- ou béta-spectrines par exemple. Les manifestations sont très disparates jusqu'à l'anémie hémolytique. Le diagnostic repose sur l'examen du frottis sanguin qui contient plus de 15 % d'elliptocytes ou ovalocytes (hématies en ellipse). Une splénectomie est nécessaire dans les formes graves. L' ellissocitosi ereditaria è una malattia autosomica dominante che causa un'alterazione caratteristica delle emazie. I globuli rossi assumono una forma ovale o ellittica. Tale disordine diventa a sua volta un fattore di rischio elevato per l'anemia emolitica.
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