Hemoglobin C
http://dbpedia.org/resource/Hemoglobin_C an entity of type: Thing
هيموجلوبين C واختصاره باللغة الإنجليزية (HbCاو Hb C) وهو هيموغلوبين غير طبيعي حيث حدث احلال أو استبدال بقايا حمض الجلوتاميك ووضع بقايا الحمض الاميني لايسين على الموقع السادس من سلسلة B – globin
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Hämoglobin C (Hb C oder HbC, kristallines Hb) ist eine Hämoglobin-Strukturvariante und gehört somit zu den erblich-bedingten Hämoglobinopathien. Verursacht wird sie durch eine Punktmutation im HBB-Gen, das für die β-Globin-Kette des Hämoglobins codiert. Durch die HBB-Mutation c.19G>A findet sich im β-Globin an der Aminosäureposition 6 anstelle der sauren Glutaminsäure ein basischer Lysinrest (E6K-Substitution).
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La hemoglobina C (HbC) es una hemoglobina anormal (variación de la hemoglobina A) en la cual hay una sustitución de un residuo de ácido glutámico por un residuo de lisina en la posición 6 de la cadena de ß-globina.
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L'emoglobina C (HbC) è una forma di emoglobina mutata, in cui si è verificata la sostituzione di un residuo di acido glutammico con un residuo di lisina in posizione 6 della catena beta-globina (sostituzione E6K) . Di conseguenza si instaura un quadro di emoglobinopatia, che spesso è peggiorato dalla concomitante presenza, in eterozigosi, di HbS. Questa condizione porta ad una grave forma di anemia.
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Гемоглоби́н С (Hemoglobin C), или ΗbC — один из мутантных гемоглобинов.
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Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the HBB gene. People with one copy of the gene for hemoglobin C do not experience symptoms, but can pass the abnormal gene on to their children. Those with two copies of the gene are said to have hemoglobin C disease and can experience mild anemia. It is possible for a person to have both the gene for hemoglobin S (the form associated with sickle cell anemia) and the gene for hemoglobin C; this state is called hemoglobin SC disease, and is generally more severe than hemoglobin C disease, but milder than sickle cell anemia.
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L'hémoglobine C, couramment symbolisée par HbC, est une hémoglobine anormale résultant d'une mutation génétique conduisant à la substitution d'un résidu de glutamate par un résidu de lysine en position 6 de la séquence de la sous-unité β-globine ; il s'agit par conséquent d'une substitution E6K, E et K étant respectivement les codes pour le glutamate et la lysine. Cette forme d'hémoglobine mutée réduit la plasticité des érythrocytes, provoquant une hémoglobinopathie généralement asymptomatique, hormis chez les homozygotes, pour lesquels elle demeure malgré tout bénigne.
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A Hemoglobinopatia C é uma doença de ordem genética onde existe a formação da anômala hemoglobina C. Indivíduos normais possuem homozigose para hemoglobina A (HbAA). A hemoglobinopatia C ocorre por mutação na posição 6 do gene da cadeia beta da hemoglobina, ocorrendo substituição do aminoácido ácido glutâmico pelo aminoácido lisina. Os indivíduos com hemoglobinopatia C possuem homozigose HbCC. Quando presente apenas um dos genes alterado, sendo o outro normal, é chamada de Traço C (HbAC).
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هيموغلوبين c
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Hämoglobin C
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Hemoglobina C
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Hemoglobin C
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Hémoglobine C
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Emoglobina C
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Hemoglobinopatia C
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Гемоглобин C
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Hemoglobin C
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Hemoglobin C
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هيموجلوبين C واختصاره باللغة الإنجليزية (HbCاو Hb C) وهو هيموغلوبين غير طبيعي حيث حدث احلال أو استبدال بقايا حمض الجلوتاميك ووضع بقايا الحمض الاميني لايسين على الموقع السادس من سلسلة B – globin
rdf:langString
Hämoglobin C (Hb C oder HbC, kristallines Hb) ist eine Hämoglobin-Strukturvariante und gehört somit zu den erblich-bedingten Hämoglobinopathien. Verursacht wird sie durch eine Punktmutation im HBB-Gen, das für die β-Globin-Kette des Hämoglobins codiert. Durch die HBB-Mutation c.19G>A findet sich im β-Globin an der Aminosäureposition 6 anstelle der sauren Glutaminsäure ein basischer Lysinrest (E6K-Substitution).
rdf:langString
La hemoglobina C (HbC) es una hemoglobina anormal (variación de la hemoglobina A) en la cual hay una sustitución de un residuo de ácido glutámico por un residuo de lisina en la posición 6 de la cadena de ß-globina.
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Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the HBB gene. People with one copy of the gene for hemoglobin C do not experience symptoms, but can pass the abnormal gene on to their children. Those with two copies of the gene are said to have hemoglobin C disease and can experience mild anemia. It is possible for a person to have both the gene for hemoglobin S (the form associated with sickle cell anemia) and the gene for hemoglobin C; this state is called hemoglobin SC disease, and is generally more severe than hemoglobin C disease, but milder than sickle cell anemia. HbC was discovered by Harvey Itano and James V. Neel in 1950 in two African-American families. It has since been established that it is most common among people in West Africa. It confers survival benefits as individuals with HbC are naturally resistant to malaria caused by Plasmodium falciparum, albeit incompletely.
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L'hémoglobine C, couramment symbolisée par HbC, est une hémoglobine anormale résultant d'une mutation génétique conduisant à la substitution d'un résidu de glutamate par un résidu de lysine en position 6 de la séquence de la sous-unité β-globine ; il s'agit par conséquent d'une substitution E6K, E et K étant respectivement les codes pour le glutamate et la lysine. Cette forme d'hémoglobine mutée réduit la plasticité des érythrocytes, provoquant une hémoglobinopathie généralement asymptomatique, hormis chez les homozygotes, pour lesquels elle demeure malgré tout bénigne. L'affection à hémoglobine C se transmet de manière autosomique récessive, c'est-à-dire qu'elle ne se manifeste que chez les patients homozygotes, lesquels possèdent deux allèles altérés du gène HBB sur le chromosome 11.
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L'emoglobina C (HbC) è una forma di emoglobina mutata, in cui si è verificata la sostituzione di un residuo di acido glutammico con un residuo di lisina in posizione 6 della catena beta-globina (sostituzione E6K) . Di conseguenza si instaura un quadro di emoglobinopatia, che spesso è peggiorato dalla concomitante presenza, in eterozigosi, di HbS. Questa condizione porta ad una grave forma di anemia.
rdf:langString
A Hemoglobinopatia C é uma doença de ordem genética onde existe a formação da anômala hemoglobina C. Indivíduos normais possuem homozigose para hemoglobina A (HbAA). A hemoglobinopatia C ocorre por mutação na posição 6 do gene da cadeia beta da hemoglobina, ocorrendo substituição do aminoácido ácido glutâmico pelo aminoácido lisina. Os indivíduos com hemoglobinopatia C possuem homozigose HbCC. Quando presente apenas um dos genes alterado, sendo o outro normal, é chamada de Traço C (HbAC). Pacientes com esta doença frequentemente apresentam anemia hemolítica e esplenomegalia. Os esfregaços de sangue periférico possuem presença de e hemácias em alvo. Têm sido descrita como fator protetor contra formas graves da malária, sendo encontrada maior incidência desta doença em regiões da África, onde a malária é endêmica.
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Гемоглоби́н С (Hemoglobin C), или ΗbC — один из мутантных гемоглобинов.
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