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ORPHA:93616

Hemoglobin H disease

medium confidenceDisorder

Also known as: Alpha-thalassemia intermedia · HbH disease

Publications

1,130

83.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,147

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,130 matched papers (489 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Reduced alpha/beta synthesis ratio; Splenomegaly; Hepatomegaly) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

5

Associated phenotypes · MONDO:0013512

  • Reduced alpha/beta synthesis ratio
  • Splenomegaly
  • Hepatomegaly
  • Hemolytic anemia
  • HbH hemoglobin

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?

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=3967) is 59.

1,130 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).

489 in the last 10 years · medium confidence · 83.2th percentile (publications denominator)

Phrase hits: 1,130 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Li J13 papers · 2025

    Department of Reproductive Medicine, Guangzhou Women and Children's Medical Center Liuzhou Hospital, Liuzhou, Guangxi, China.

    Papers in Europe PMC
  2. 02
    Huang Y10 papers · 2026

    Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

    Papers in Europe PMC
  3. 03
    Zhang X9 papers · 2026

    Department of Critical Care Units, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

    Papers in Europe PMC
  4. 04
    Charoenkwan 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
  5. 05
    Hantrakool S6 papers · 2026

    Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

    Papers in Europe PMC
  6. 06
    Lai Y6 papers · 2026

    Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

    Papers in Europe PMC
  7. 07
    Tantiworawit A6 papers · 2026

    Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

    Papers in Europe PMC
  8. 08
    Teawtrakul N6 papers · 2026

    Division of Hematology, Department of Internal Medicine, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand.

    Papers in Europe PMC
  9. 09
    Fucharoen 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
  10. 10
    Kattamis 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 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.

medium 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 41 · after dedupe 41 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 41 · 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 (41)

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 Hemoglobin H disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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