Discovery of Sideroblastic Anemia Immune Deficiency (SIFD) Posted September 6, 2013 by Nick Haddow

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Notification of novel form of mitochondrial disease published in the medical journal Blood.

http://bloodjournal.hematologylibrary.org/content/122/1/112.full?sid=93d16cdd-89ec-4eeb-81e7-71c182ae0924  

A novel form of mitochondrial disease was recently published in the medical journal Blood this past April (2013). There is a small population of children from around the world that have been diagnosed with this disease whose main features are sideroblastic anemia, B-cell immune deficiency, intermittent episodes of fever and illness, and developmental delay. Researchers at the Children’s Hospital of Eastern Ontario (CHEO) are engaged in studying this disease in collaboration with an international research consortium. This is a recessive genetic form of mitochondrial disease that can be confirmed through genetic testing. For more information, please visit http://www.cheo.on.ca/