A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.

Abstract excerpt

Hereditary atransferrinemia is a very rare disorder characterized by microcytic anemia and iron overload. It has been reported in only 10 patients in 8 families. The molecular basis of atransferrinemia has been determined in only 3 human cases. We now report a new patient with this rare disorder, who is the first known case in Turkey, the 11th patient reported in the published literature and only the 4th case of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Substitution
• Share to Anemia, Hypochromic
• Share to Consanguinity