ORPHA:260305
Autosomal recessive sideroblastic anemia
Also known as: ARSA · Congenital sideroblastic anemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
355
81.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,192
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016828
- UMLS:C4274077
Additional Mondo synonyms (1)
sideroblastic anemia, autosomal recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
355 matched papers (240 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 1 for broader category sideroblastic anemia
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
355
355 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
355 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
240 in the last 10 years · medium confidence · 81.4th percentile (publications denominator)
Phrase hits: 355 · MeSH hits: 0
Who's working on it?
1,192
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Fujiwara T14 papers · 2025
Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan ; Molecular Hematology/Oncology, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
Papers in Europe PMC - 02Fleming MD13 papers · 2025
Department of Pathology, Boston Children's Hospital, Boston, MA;
Papers in Europe PMC - 03Harigae H13 papers · 2022
Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan ; Molecular Hematology/Oncology, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.
Papers in Europe PMC - 04Campagna DR10 papers · 2025
Department of Pathology, Boston Children's Hospital, Boston, MA;
Papers in Europe PMC - 05Bottomley SS9 papers · 2024
Department of Medicine, Hematology-Oncology Section, University of Oklahoma College of Medicine, Oklahoma City, OK;
Papers in Europe PMC - 06Fukuhara N5 papers · 2022
Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Papers in Europe PMC - 07Heeney MM5 papers · 2021
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA;
Papers in Europe PMC - 08Onishi Y5 papers · 2022
Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Papers in Europe PMC - 09Zhang J5 papers · 2021
Department of Animal & Avian Sciences and Department of Cell Biology & Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
Papers in Europe PMC - 10Zhang Y5 papers · 2025
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 288 Nanjing Road, Tianjin, 300020, People's Republic of China. yczhang1983@126.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for sideroblastic anemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
1 interventional trial matched sideroblastic anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: sideroblastic anemia
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Autosomal recessive sideroblastic anemia" OR "Congenital sideroblastic anemia" OR "sideroblastic anemia, autosomal recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive sideroblastic anemia" OR "Congenital sideroblastic anemia" OR "sideroblastic anemia, autosomal recessive" OR "inherited sideroblastic anemia" OR "autosomal genetic disease"
Recall-expansion terms: inherited sideroblastic anemia, autosomal genetic disease
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sideroblastic anemia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ARSA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:11:54.612Z