ORPHA:90031
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
14
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
135
Distinct authors in sample
Gene link
HK1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is . Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009340
- MeSH:C562995
- OMIM:235700
- UMLS:C3150343
Additional Mondo synonyms (6)
anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient · hemolytic anaemia due to hexokinase deficiency · hemolytic anemia due to hexokinase deficiency · hemolytic anemia, nonspherocytic, due to hexokinase deficiency · nonspherocytic hemolytic anaemia due to hexokinase deficiency · nonspherocytic hemolytic anemia due to hexokinase deficiency
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — HK1
- LiteraturePresent
14 matched papers (9 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (HK1).
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?
14
14 papers have ever been indexed 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.
14 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).
9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)
Phrase hits: 14 · MeSH hits: 0
Who's working on it?
135
Distinct author names in 14 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.
- 01Kim N2 papers · 2023
Dong-A University, College of Medicine, Busan, Department of Pediatrics, Seoul, Korea.
Papers in Europe PMC - 02Abu-El-Haija A1 paper · 2025
Division of Genetics and Genomics, Harvard Medical School, Boston, MA.
Papers in Europe PMC - 03Amberger JS1 paper · 1993Papers in Europe PMC
- 04Anjankar A1 paper · 2023
Forensic Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Papers in Europe PMC - 05Arzhangi S1 paper · 2023
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Papers in Europe PMC - 06Barth M1 paper · 2025
Department of Biochemistry and Genetics, Angers University Hospital Center, Angers, France.
Papers in Europe PMC - 07Bartnik M1 paper · 2024
Department of Paediatrics Hemato-Oncology and Paediatric Gastroenterology, Pomeranian Medical University, 70-204 Szczecin, Poland.
Papers in Europe PMC - 08Bianchi M1 paper · 1995
Institute of Biological Chemistry G. Fornaini, University of Urbino, Italy.
Papers in Europe PMC - 09Bien SA1 paper · 2022
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Papers in Europe PMC - 10
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).
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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Non-spherocytic hemolytic anemia due to hexokinase deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient" OR "hemolytic anaemia due to hexokinase deficiency" OR "hemolytic anemia due to hexokinase deficiency" OR "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" OR "nonspherocytic hemolytic anaemia due to hexokinase deficiency" OR "nonspherocytic hemolytic anemia due to hexokinase deficiency"
MeSH descriptor terms unioned into the query: Hexokinase Deficiency Hemolytic Anemia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Non-spherocytic hemolytic anemia due to hexokinase deficiency" OR "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient" OR "hemolytic anaemia due to hexokinase deficiency" OR "hemolytic anemia due to hexokinase deficiency" OR "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" OR "nonspherocytic hemolytic anaemia due to hexokinase deficiency" OR "nonspherocytic hemolytic anemia due to hexokinase deficiency" OR "Hexokinase Deficiency Hemolytic Anemia" OR "HK1" OR "congenital nonspherocytic hemolytic anemia" OR "anemia due to erythrocyte enzyme disorder" OR "congenital anemia"
Recall-expansion terms: HK1, congenital nonspherocytic hemolytic anemia, anemia due to erythrocyte enzyme disorder, congenital anemia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:30:17.285Z