A Rare Case of Congenital Atransferrinemia: International Collaboration for Genetic Diagnosis

@inproceedings{Nazir2014ARC,
  title={A Rare Case of Congenital Atransferrinemia: International Collaboration for Genetic Diagnosis},
  author={Hanan F. Nazir and Murtadha Al-Khabori and Naschla Kohistani and Jacek Puchałka and Christoph A Klein},
  year={2014}
}
Congenital atransferrinemia is an extremely rare hematologic disease caused by transferrin deficiency, and characterized by microcytic hypochromic anemia with iron overload, and that can be fatal if left untreated. The prevalence is unknown. To date, there have been 16 reported cases from 14 families, with few cases confirmed genetically. Here, we report a new case from the Middle East that was diagnosed on clinical ground, and then confirmed by genetic testing through international… CONTINUE READING

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