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About 8 results

ALLMedicine™ Atransferrinemia Center

Research & Reviews  3 results

Inherited microcytic anemias.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727536
Hematology. American Society of Hematology. Education Pro... Cappellini MD, Russo R et. al.

Dec 5th, 2020 - Inherited microcytic anemias can be broadly classified into 3 subgroups: (1) defects in globin chains (hemoglobinopathies or thalassemias), (2) defects in heme synthesis, and (3) defects in iron availability or iron acquisition by the erythroid pr...

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
https://doi.org/10.1016/j.ejmg.2020.103874
European Journal of Medical Genetics; Dabboubi R, Amri Y et. al.

Feb 7th, 2020 - Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the...

Atransferrinemia
https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia

Nov 1st, 2013 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1195 Definition Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) defici...

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