ORPHA:90031
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
26
36th percentile
Trials
0
Interventional, condition-specific
Researchers
135
Distinct authors in sample
Gene link
HK1
Strong
Readiness
3/6
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.”
3/6 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
26 matched papers (20 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Reticulocytosis; Normochromic anemia; Jaundice) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
10
Associated phenotypes · MONDO:0009340
- Reticulocytosis
- Normochromic anemia
- Jaundice
- Splenomegaly
- Reduced erythrocyte hexokinase activity
Showing 5 of 10 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
26
26 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=3967) is 59.
26 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
20 in the last 10 years · high confidence · 36th 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (60)
- ctis·2025-525106-37-00·Authorised·Comparative study of two vaccination schedules for the subunit Herpes Zoster vaccine in Multiple Sclerosis and Neuromyelitis optica spectrum disease patients treated with anti-CD20 therapy: an open-label randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524003-68-00·Authorised·OBINUSS - Safety and efficacy of obinutuzumab in systemic sclerosis: a phase II, randomized, double-blinded versus placebo-controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525933-22-00·Authorised·STRategiEs for Antiplatelet Management foLlowIng acute coroNary syndromE (STREAMLINE)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526368-18-00·Authorised·A Randomized Controlled Study Evaluating Short-Term Dual Antiplatelet Therapy with Low-Dose Ticagrelor (60 mg) Followed by Monotherapy versus Standard-Duration Dual Antiplatelet Therapy with Clopidogrel in Patients with Chronic Coronary Syndrome Undergoing Percutaneous Coronary Intervention: the STELAR trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522488-14-00·Authorised·A clinical study to compare efficacy and safety of two different doses of CagriSema and semaglutide in participants with obesity with or without type 2 diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-523837-25-00·Authorised·4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523819-11-00·Authorised·A Phase 3 Randomized, Open Label, Multicenter Study to Evaluate the Safety and Efficacy of ABBV-706 versus Standard of Care in Subjects with Relapsed/Refractory Small Cell Lung Cancer (SCLC)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516251-40-01·Authorised·Multi-Center, Placebo-Controlled, Phase 3 Study of Etripamil Nasal Spray (NS) in Patients with Atrial Fibrillation and Rapid Ventricular Rate (RVR). The ReVeRA-301 Trial.
skipped — LLM skipped (--skip-llm)
- ctis·2026-526526-41-01·Authorised·Within-Patient Comparison of Serum Transthyretin Response to Tafamidis Versus Acoramidis: A Pilot Crossover Study in Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-524688-19-00·Authorised·A Phase III Randomized, Double-blind, Placebo-controlled Multicenter Master Protocol to Evaluate the Efficacy and Safety of Elecoglipron in Participants with Obesity or Overweight with or without Type 2 Diabetes Mellitus (Embold)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-525040-18-00·Authorised·DECREASE-IPC 2025-068 : De-Ecalating neoadjuvant Chemoimmunotherapy in early triple-negative BREASt cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523650-14-00·Authorised·functional imaging of digital osteoarthritis and rheumatoid arthritis using 99mTc-NTP15-5 in nuclear medicine : phase II clinical study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2025-523994-41-00·Authorised·A Phase III, Randomized, Double-blind, Parallel-group, Placebo-controlled Multicenter Study to Evaluate the Effect of Elecoglipron in Reducing Renal Outcomes and Mortality in Participants with Chronic Kidney Disease (Elevate-CKD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525097-11-00·Authorised·Phase 3 Randomized Study of Teclistamab and Talquetamab (Tec-Tal) Versus Daratumumab and Lenalidomide (DR) in Minimal Residual Disease (MRD) Positive Patients With Newly Diagnosed Multiple Myeloma After Autologous Hematopoietic Stem Cell Transplantation (TiTan)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525185-21-00·Authorised·IKF-099/D-FLOT-TNT
Total Neoadjuvant Treatment with preoperative FLOT/Durvalumab plus postoperative Durvalumab for Resectable Gastroesophageal Adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-524282-24-00·Authorised·A Phase 3b, Open-Label Study of Crinecerfont to Evaluate Androgen Reduction and Related Outcomes in Adults With Classic Congenital Adrenal Hyperplasia
skipped — LLM skipped (--skip-llm)
- ctis·2026-525727-24-00·Authorised·Prospective, multicentre, open-label, single arm trial on contraceptive efficacy, safety and tolerability of LPRI-CF113 (Drospirenone 4 mg + 2.8 mg) during 13 cycles.
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523435-18-00·Authorised·Colchicine for the Reduction of Dependency and Vascular Events after an Acute Intracerebral Hemorrhage (CoVasc-ICH2)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525620-23-00·Authorised·Local and systemic immune modulation by Rilvegostomig (AZD2936) in the treatment of advanced gastric cancer (RILVE Project)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523933-24-00·Authorised·A Randomized, Open-label, Parallel-group Phase III Study to Evaluate the Efficacy, Safety, and Tolerability of Elecoglipron Compared with Oral Semaglutide in Adults with Type 2 Diabetes Mellitus (Eluminate-2)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525242-29-00·Authorised·A Phase III, Multicentre, Randomised, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Elafibranor in Adult Participants with Primary Sclerosing Cholangitis
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Non-spherocytic hemolytic anemia due to hexokinase deficiency — check Associations / patient organisations on that page.
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") OR (MESH:"Hexokinase Deficiency Hemolytic Anemia") OR ("HK1 syndrome" OR "HK1-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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