ORPHA:75563
X-linked sideroblastic anemia
Also known as: XLSA
Publications
453
78.2th percentile
Trials
0
Interventional, condition-specific
Researchers
951
Distinct authors in sample
Gene link
ALAS2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020721
- MeSH:C536761
- OMIM:300751
- UMLS:C4551511
Additional Mondo synonyms (2)
anemia, sideroblastic, 1, X-linked recessive · sideroblastic anemia, X-linked
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — ALAS2
- LiteraturePresent
453 matched papers (194 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?
Yes — we know a specific gene responsible (ALAS2).
GenCC classification: Strong.
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?
453
453 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.
453 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).
194 in the last 10 years · medium confidence · 78.2th percentile (publications denominator)
Phrase hits: 453 · MeSH hits: 11
Who's working on it?
951
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.
- 01Harigae H16 papers · 2022
Department of Hematology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan. harigae@med.tohoku.ac.jp.
Papers in Europe PMC - 02Fujiwara T13 papers · 2025
Department of Hematology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.
Papers in Europe PMC - 03
- 04
- 05Bishop DF6 papers · 2020
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA.
Papers in Europe PMC - 06Bottomley SS6 papers · 2025
University of Oklahoma College of Medicine, Oklahoma City, OK.
Papers in Europe PMC - 07Ferreira GC6 papers · 2022
Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, United States.
Papers in Europe PMC - 08Furuyama K6 papers · 2018
Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Sendai, Japan. k-furuya@mail.cc.tohoku.ac.jp
Papers in Europe PMC - 09Brown BL5 papers · 2026
Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Papers in Europe PMC - 10Puy H5 papers · 2021
INSERM U1149, Centre de Recherche sur l'inflammation, Université Paris Diderot, site Bichat, Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.
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.
"X-linked sideroblastic anemia" OR "anemia, sideroblastic, 1, X-linked recessive" OR "sideroblastic anemia, X-linked"
MeSH descriptor terms unioned into the query: X-linked sideroblastic anemia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked sideroblastic anemia" OR "anemia, sideroblastic, 1, X-linked recessive" OR "sideroblastic anemia, X-linked" OR "ALAS2" OR "inherited sideroblastic anemia"
Recall-expansion terms: ALAS2, inherited sideroblastic anemia
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: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XLSA
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 2026-07-27T01:50:04.346Z