Hemoglobin H disease

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Hemoglobin H disease

ORPHA:93616Disease

Also called Alpha-thalassemia intermedia · HbH disease

What it is

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.

Key facts

Prevalence
1-9 / 1 000 000 (United States)
Age of onset
All ages
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

HBA1Disease-causing germline mutation(s)
HBA2Disease-causing germline mutation(s)

ICD-10 codes

D56.0filed under a broader ICD-10 category — shared with 6 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MEDDRA 10063435MONDO 0013512OMIM 613978UMLS C3161174

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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