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ORPHA:330041

Hemoglobin M disease

high confidenceDisorder

Also known as: Autosomal dominant methemoglobinemia · M hemoglobinopathy

Publications

84

50.9th percentile

Trials

0

Interventional, condition-specific

Researchers

222

Distinct authors in sample

Gene link

HBB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

methemoglobinemia, beta type

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.

  1. Gene identifiedPresent

    Definitive — HBB

  2. LiteraturePresent

    84 matched papers (63 in last 10 years) Source

  3. Phenotype characterisedPresent

    2 HPO annotations (e.g. Cyanosis; Methemoglobinemia) 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?

Yes — we know a specific gene responsible (HBB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

2

Associated phenotypes · MONDO:0018023

  • Cyanosis
  • Methemoglobinemia

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?

84

84 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.

84 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).

63 in the last 10 years · high confidence · 50.9th percentile (publications denominator)

Phrase hits: 59 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

222

Distinct author names in 59 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
    Iuchi I2 papers · 1965
    Papers in Europe PMC
  2. 02
    Miyaji T2 papers · 1965
    Papers in Europe PMC
  3. 03
    Shibata S2 papers · 1965
    Papers in Europe PMC
  4. 04
    Wang Y2 papers · 2025

    Institute of Ecology and Evolution, University of Edinburgh, Edinburgh, United Kingdom.

    Papers in Europe PMC
  5. 05
    Abu-Tineh M1 paper · 2023

    Department of Medical Oncology/Hematology, National Center for Cancer Care and Research, Doha, Qatar.

    Papers in Europe PMC
  6. 06
    Ahadiat OR1 paper · 2016

    Rosalind Franklin University of Medicine and Science, Chicago Medical School, North Chicago, Illinois.

    Papers in Europe PMC
  7. 07
    Ahmed L1 paper · 2019

    Department of Surgery, Harlem Hospital Center, Columbia University Medical Center, New York, NY, USA.

    Papers in Europe PMC
  8. 08
    Al-Abdulmalek A1 paper · 2023

    Department of Internal Medicine, Hamad Medical Cooperation, Doha, Qatar.

    Papers in Europe PMC
  9. 09
    Al-Sulaiman R1 paper · 2023

    Department of Medical Oncology/Hematology, National Center for Cancer Care and Research, Doha, Qatar.

    Papers in Europe PMC
  10. 10
    Alonso-Ojembarrena A1 paper · 2016

    Department of Neonatology (NICU), Hospital Universitario Puerta del Mar, Cádiz, Spain.

    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).

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 M 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 M disease" OR "Autosomal dominant methemoglobinemia" OR "M hemoglobinopathy" OR "methemoglobinemia, beta type") OR (MESH:"Hemoglobin M Disease") OR ("HBB syndrome" OR "HBB-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemoglobin M Disease

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hemoglobin M disease" OR "Autosomal dominant methemoglobinemia" OR "M hemoglobinopathy" OR "methemoglobinemia, beta type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-27T14:04:34.323Z