Title

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

UMMS Affiliation

Department of Pediatrics, Division of Hematology Oncology

Publication Date

12-17-2015

Document Type

Article

Disciplines

Hematology | Hemic and Lymphatic Diseases

Abstract

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.

DOI of Published Version

10.1182/blood-2015-09-659854

Source

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

Journal/Book/Conference Title

Blood

Comments

Full author list omitted for brevity. For full list of authors see article.

Related Resources

Link to Article in PubMed

PubMed ID

26491070