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- Atransferrinemia is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia was first described in 1961 and is extremely rare, with only ten documented cases worldwide. (en)
- Die hereditäre oder kongenitale Atransferrinämie, sowie die Hypotransferrinämie, sind seltene, meist angeborene (kongenitale) Stoffwechselerkrankungen, gekennzeichnet durch einen Mangel an Transferrin. Ursache sind Genmutationen im Transferrin- oder den HFE-Genen, sodass entweder zu wenig oder gar kein Transferrin gebildet wird. Die Erkrankung wird meist autosomal rezessiv vererbt. (de)
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- Atransferrinemia has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell are defective. (en)
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- Mutations in the TF gene (en)
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- TF level, Physical exam (en)
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- 273.800000 (xsd:double)
- (en)
- E88.0 (en)
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- familial atransferrinemia (en)
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- Atransferrinemia is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia was first described in 1961 and is extremely rare, with only ten documented cases worldwide. (en)
- Die hereditäre oder kongenitale Atransferrinämie, sowie die Hypotransferrinämie, sind seltene, meist angeborene (kongenitale) Stoffwechselerkrankungen, gekennzeichnet durch einen Mangel an Transferrin. Ursache sind Genmutationen im Transferrin- oder den HFE-Genen, sodass entweder zu wenig oder gar kein Transferrin gebildet wird. Die Erkrankung wird meist autosomal rezessiv vererbt. (de)
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| rdfs:label
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- Atransferrinemia (en)
- Hereditäre Atransferrinämie und Hypotransferrinämie (de)
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