ORPHA:93616
Hemoglobin H disease
Also known as: Alpha-thalassemia intermedia · HbH disease
Publications
1,130
90th percentile
Trials
0
Interventional, condition-specific
Researchers
1,147
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013512
- OMIM:613978
- UMLS:C3161174
- NCIT:C95504
Additional Mondo synonyms (10)
HBA1;HBA2 digenic triallelic hemoglobin H disease · HBH · HbH · alpha-thalassemia intermedia · haemoglobin H disease, deletional and nondeletional · hemoglobin H disease · hemoglobin H disease caused by triallelic variation in HBA1;HBA2 · hemoglobin H disease related to triallelic variation in HBA1 and HBA2 · hemoglobin H disease, deletional · hemoglobin H disease, deletional and nondeletional
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,130 matched papers (489 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?
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?
1,130
1,130 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,130 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).
489 in the last 10 years · medium confidence · 90th percentile (publications denominator)
Phrase hits: 1,130 · MeSH hits: 0
Who's working on it?
1,147
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.
- 01Li J13 papers · 2025
Department of Reproductive Medicine, Guangzhou Women and Children's Medical Center Liuzhou Hospital, Liuzhou, Guangxi, China.
Papers in Europe PMC - 02Huang Y10 papers · 2026
Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Papers in Europe PMC - 03Zhang X9 papers · 2026
Department of Critical Care Units, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Papers in Europe PMC - 04Charoenkwan P8 papers · 2026
Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Papers in Europe PMC - 05Hantrakool S6 papers · 2026
Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Papers in Europe PMC - 06Lai Y6 papers · 2026
Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Papers in Europe PMC - 07Tantiworawit A6 papers · 2026
Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Papers in Europe PMC - 08Teawtrakul N6 papers · 2026
Division of Hematology, Department of Internal Medicine, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand.
Papers in Europe PMC - 09Fucharoen S5 papers · 2025
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand. Electronic address: supan@kku.ac.th.
Papers in Europe PMC - 10Kattamis A5 papers · 2024
First Department of Pediatrics, National and Kapodistrian University of Athens, Athens, Greece.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Hemoglobin H disease" OR "Alpha-thalassemia intermedia" OR "HbH disease" OR "HBA1;HBA2 digenic triallelic hemoglobin H disease" OR "haemoglobin H disease, deletional and nondeletional" OR "hemoglobin H disease caused by triallelic variation in HBA1;HBA2" OR "hemoglobin H disease related to triallelic variation in HBA1 and HBA2" OR "hemoglobin H disease, deletional" OR "hemoglobin H disease, deletional and nondeletional"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hemoglobin H disease" OR "Alpha-thalassemia intermedia" OR "HbH disease" OR "HBA1;HBA2 digenic triallelic hemoglobin H disease" OR "haemoglobin H disease, deletional and nondeletional" OR "hemoglobin H disease caused by triallelic variation in HBA1;HBA2" OR "hemoglobin H disease related to triallelic variation in HBA1 and HBA2" OR "hemoglobin H disease, deletional" OR "hemoglobin H disease, deletional and nondeletional"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HBH
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 2026-07-27T04:29:32.888Z