Ontology highlight
ABSTRACT:
SUBMITTER: Wiseman DH
PROVIDER: S-EPMC3761334 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Wiseman Daniel H DH May Alison A Jolles Stephen S Connor Philip P Powell Colin C Heeney Matthew M MM Giardina Patricia J PJ Klaassen Robert J RJ Chakraborty Pranesh P Geraghty Michael T MT Major-Cook Nathalie N Kannengiesser Caroline C Thuret Isabelle I Thompson Alexis A AA Marques Laura L Hughes Stephen S Bonney Denise K DK Bottomley Sylvia S SS Fleming Mark D MD Wynn Robert F RF
Blood 20130403 1
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 famili ...[more]