Daniel H Wiseman, Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M Heeney, Patricia J Giardina, Robert J Klaassen, Pranesh Chakraborty, Michael T Geraghty, Nathalie Major-Cook, Caroline Kannengiesser, Isabelle Thuret, Alexis A Thompson, Laura Marques, Stephen Hughes, Denise K Bonney, Sylvia S Bottomley, Mark D Fleming, Robert F Wynn
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B immunodeficiency, periodic fevers, and development delay. Twelve cases from 10 families were identified...
July 4, 2013: Blood