atransferrinemia


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atransferrinemia

Molecular medicine An AR condition characterized by a complete absence of transferrin Clinical Severe hypochromic anemia, hemosiderosis of heart and liver, heart failure Management Parenteral transferrin. See Transferrin.
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7018 Atransferrinemia and iron overload In Africa 335 Amyloidosis, familial visceral, and hypoalphalipoproteinemia
Las enfermedades causadas por una alteracion en la Tf son escasas, se conoce un trastorno llamado atransferrinemia, caracterizado por un nivel plasmatico de la proteina casi indetectable, anemia microcitica y sobrecarga hepatica de hierro.
Molecular characterization of a case of atransferrinemia. Blood 96(13):4071-4074.
Molecular characterization of a third case of human atransferrinemia. Blood 2004;104:2607.
Exclusion criteria included the following: (a) serum liver enzyme (aspartate aminotransferase and alanine aminotransferase) activities above the upper limits of the reference intervals; (b) increased serum creatinine; (c) previous acute major cardiovascular event; (d) acute illnesses and current evidence of acute or chronic inflammatory or infectious diseases; (e) history of transfusion or iron or vitamin therapies in the previous 5 years; (fl history of disturbances in iron balance (e.g., hemosiderosis from any cause, atransferrinemia, paroxysmal nocturnal hemoglobinuria, iron deficiency); and (S) mental illness rendering the person unable to understand the nature, scope, and possible consequences of the study.
Congenital atransferrinemia. A case report and review of literature.