Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Department of Pediatrics, Division of Hematology Oncology
Hematology | Hemic and Lymphatic Diseases
The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.
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Citation: Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Link to article on publisher's site
Schmitz-Abe, Klaus; Newburger, Peter E.; and Fleming, Mark D., "Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9" (2015). Pediatric Publications and Presentations. 69.