Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
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Key Points: Mutations in HSPA9 cause CSAs that may be inherited in a recessive or pseudodominant manner. HSPA9 loss-of-function alleles are often inherited in trans with a common coding single nucleotide polymorphism associated with altered gene expression.
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Mutation in the HSPA9 gene is associated with sideroblastic anemia.
“The mutation in this gene is associated with sideroblastic anemia (Schmitz-Abe et al., 2015), while the PCSK6 gene is involved in iron homeostasis”
From Identification of Candidate Signature Genes and Key Regulators Associated With Trypanotolerance in the Sheko Breed (2019) · cites this paper as Schmitz-Abe et al., 2015
Rare severe cases of sideroblastic anemia result from mutations of Fe/S cluster proteins, such as GLRX5 or HSPA9, which decrease Fe/S groups and the activity of ferrochelatase, the last enzyme of the heme pathway.
“Rare severe cases result from mutations of Fe/S cluster proteins, such as GLRX589 or HSPA9,90 which decrease Fe/S groups and the activity of ferrochelatase, the last enzyme of the heme pathway.”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [90]
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“In the HSPA9 anemia, which is the most commonly described of Fe-S–associated CSAs, a variety of null alleles are present in trans of a functionally mild missense variant or a common variant (minor allele frequency ~30%–40%) at rs10117T, which is associated with reduced HSPA9 mRNA expression (15).”
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“Recently, mutations in the mitochondrial encoded ATP6 gene, in the mitochondrial leucyl-transferase gene LARS2, in the tRNA nucleotidyl transferase TRNT1 and in HSPA9, a homologue of the mitochondrial HSP70, have been associated to sideroblastic anemia (29-33).”
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“Meanwhile, variants in HSPA9 have also been associated with sideroblastic anemia from recessive (or pseudo-dominant) mutations [39] and are potentially associated with Parkinson disease [40].”
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“151,152 The precise protein impact of these mutations and how they result in distinct disease presentations is still unclear.”
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“Additional mutations of GRP75 have been described to cause congenital sideroblastic anemia (MIM#182170; Schmitz-Abe et al., 2015).”
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“A genetic screen of patients with congenital sideroblastic anemia has revealed several mutations in the long arm of chromosome 5, specifically in the HSPA9 gene which codes for the mitochondrial Hsp70 protein (Schmitz-Abe et al., 2015).”
BackgroundResultInfluentialQuality control at the powerhouse: mitochondrial proteostasis dysfunction and disease
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“For the HSPA9 gene, a clinical study 41 and a study using yeast 42 identified that HSPA9 mutations may contribute to congenital side-roblastic anemia, implicating a role of HSPA9 in erythroid maturation.”
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“Its dysregulation has also been linked to multiple neurological disorders, such as Alzheimer’s [29], Parkinson’s [30,31], Huntington [32], Amyotrophic Lateral Sclerosis (ALS) [33], EVEN-PLUS syndrome [34], and Congenital Sideroblastic Anemias (CSAs) [35].”
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Jain, S., Paz, E., & Azem, A. (2024) · Genes · doi:10.3390/genes15121534 · Cited by 1 · see citing works
Clinical characterization of novel HSPA9 splice variant in a Chinese woman
Li, S., Zheng, X., Wang, T., & Xue, J. (2021) · Clinical Genetics · doi:10.1111/cge.13910 · Cited by 1 · see citing works
“Moreover, Mean Cell Volume of this patient was larger than normal, not consistent with previously reported phenotype of other HSPA9 variants.(2)”
BackgroundResultBiology and Pathophysiology of MDS with del(5q)
Chan, O., Talati, C., Sallman, D. A., & List, A. F. (2020) · Springer eBooks · doi:10.1007/978-3-030-51878-3_3 · Cited by 1 · see citing works
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome
Goldenstein, H., Shrem, S. B., Weiss, O., Zeligson, S., Segel, R., Mory, A., & Weiss, K. (2021) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000380 · Cited by 1 · see citing works
“Truncating variants in HSPA9 were reported in autosomal dominant sideroblastic anemia (Ducamp and Fleming, 2019), but the presence of a hypomorphic allele in trans may be required (Schmitz-Abe et al., 2015).”
BackgroundDisorders of red cells and platelets
MBBS, F. B. J. B. (2021) · doi:10.1002/9781119820307.ch8 · Cited by 1 · see citing works
Kannengiesser, C., Manceau, H., & Peoc’h, K. (2022) · doi:10.32388/u003y7 · Cited by 1 · see citing works
Watanabe, A., Fujiwara, T., Ohta, A., Shimizu, Y., & Tanaka, R. (2022) · doi:10.22541/au.165009783.33851650/v1
Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism
Ribes, A., & Tort, F. (2022) · Springer eBooks · doi:10.1007/978-3-030-67727-5_27
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review
Liu, M., Li, H., Ren, S., & Ding, C. (2024) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2335
“In 2015, in a 4th generation Dutch kindred with mild congenital sidero-blastic anemia mapping to chromosome 5q, Schmitz-Abe et al. (2015) analyzed the candidate gene HSPA9 and identified a heterozygous 2-bp deletion that segregated with the disease.”
BackgroundChang, X., Ji, C., Zhang, T., & Huang, H. (2024) · Clinica Chimica Acta · doi:10.1016/j.cca.2024.117803
Zhao, D., Yang, J., Meng, D., Liu, L., Ge, J., Shi, X., & Long, Z. (2026) · Gene · doi:10.1016/j.gene.2026.150120
Chien, T.-J., Huang, Q.-W., Chuang, P.-H., Wu, C.-Y., Lee, M., Hsu, Y.-N., Su, Y., Chen, S., Wu, Y.-X., Chen, M.-H., et al. (2026) · Mitochondrion · doi:10.1016/j.mito.2026.102186
Makis, A. C., Saougou, I., & Hatzimichael, E. C. (2026) · HemaSphere · doi:10.1002/hem3.70465
- Authors
- Schmitz-Abe, K., Ciesielski, S. J., Schmidt, P. J., Campagna, D. R., Rahimov, F., Schilke, B. A., Cuijpers, M., Rieneck, K., Lausen, B., Linenberger, M. L., Sendamarai, A. K., Guo, C., Hofmann, I., Newburger, P. E., Matthews, D., Shimamura, A., Snijders, P. J. L. M., Towne, M. C., Niemeyer, C. M., Watson, H. G., Dziegiel, M. H., Heeney, M. M., May, A., Bottomley, S. S., Swinkels, D. W., Markianos, K., Craig, E. A., & Fleming, M. D.
- Affiliations
- Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA;
- University of Wisconsin–Madison (US)
- Boston Children's Hospital (US)
- VieCuri Medisch Centrum (NL)
- Department of Clinical Immunology, and
- Copenhagen University Hospital (DK)
- University of Washington (US)
- Harvard University (US)
- University of Massachusetts Chan Medical School (US)
- Seattle Children's Hospital (US)
- Huisartsenteam Sint Willebrord, Sint Willebrord, The Netherlands;
- University of Freiburg (DE)
- Aberdeen Royal Infirmary (GB)
- Cardiff University (GB)
- University of Oklahoma (US)
- Radboud University Medical Center (NL)
- Corresponding author
- Ciesielski, Szymon J.
- Schmidt, Paul J.
- Campagna, Dean R.
- ORCID
- Ciesielski, Szymon J.
- Schmidt, Paul J.
- Campagna, Dean R.
- Rahimov, Fedik
- Schilke, Brenda A.
- Rieneck, Klaus
- Lausen, Birgitte
- Linenberger, Michael L.
- Sendamarai, Anoop K.
- Hofmann, Inga
- Newburger, Peter E.
- Shimamura, Akiko
- Towne, Meghan C.
- Niemeyer, Charlotte M.
- Watson, Henry G.
- Dziegiel, Morten H.
- Heeney, Matthew M.
- Bottomley, Sylvia S.
- Swinkels, Dorine W.
- Markianos, Kyriacos
- Craig, Elizabeth A.
- Fleming, Mark D.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2015-12-17
- Volume
- 126
- Issue
- 25
- Pages
- 2734-2738
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC4683334
- OpenAlex
- W2463506112
- Semantic Scholar
- 25160fc3241c3c72e4a71bc1f0d2a46b5ac226fa
- Cited by
- 75
- References
- 17
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 10 · 2023: 2 · 2022: 8 · 2021: 9 · 2020: 10 · 2019: 10 · 2018: 6 · 2017: 10 · 2016: 4
- FWCI
- 5.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- U.S. Department of Veterans Affairs
- National Institutes of Health (R01GM)
- National Institute of General Medical Sciences (GM-27870, R01 GM GM27870, R01GM027870)
- National Institute of Diabetes and Digestive and Kidney Diseases (R24DK099808, DK087992, R01DK087992)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Porphyrin Metabolism and Disorders
- Keywords
- congenital sideroblastic anemia, HSPA9, mitochondrial Hsp70, iron-sulfur cluster assembly, autosomal recessive inheritance, pseudodominant inheritance, single nucleotide polymorphisms, mRNA expression, loss-of-function alleles
- MeSH terms
- Adult, Aged, Anemia, Sideroblastic, Base Sequence, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, HSP70 Heat-Shock Proteins, Reverse Transcriptase Polymerase Chain Reaction, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Mitochondrial Proteins, Genetic Diseases, X-Linked, Young Adult, Real-Time Polymerase Chain Reaction
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