ORPHA:93616
Hemoglobin H disease
Synonyms: Alpha-thalassemia intermedia · HbH disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin H disease | Alpha-thalassemia intermedia · HbH disease |
| fr | Hémoglobinose H | Maladie HbH · Thalassémie alpha intermédiaire · Alpha-thalassémie intermédiaire |
| de | Hämoglobin-H-Krankheit | Alpha-Thalassämie, intermediäre · HbH-Krankheit |
| es | Enfermedad de la hemoglobina H | Alfa-talasemia intermedia · Enfermedad de la HbH |
| it | Emoglobinopatia H | Alfa talassemia intermedia · Malattia dell'HbH |
| nl | Hemoglobine H-ziekte | HbH-ziekte · Intermediaire alfa-thalassemie |
| pt | Doença da hemoglobina H | |
| pl | Choroba hemoglobiny H | Alfa talasemia pośrednia · Choroba HbH |
| cs | Nemoc hemoglobinu H | Alpha-thalasemia intermedia · HbH nemoc |
| uk | Хвороба гемоглобіну Н | Альфа-таласемія інтермедіальна · Хвороба HbH |
| zh | 血红蛋白H病 | 中间型α-地中海贫血 |
| tr | Hemoglobin H hastalığı | HbH hastalığı · Alfa talasemi intermedia |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613978 | E | validated | |
| ICD-10 | D56.0 | NTBT | attributed | validated |
| ICD-11 | 3A50.02 | E | specific | validated |
| MONDO | 0013512 | E | validated | |
| UMLS | C3161174 | E | validated | |
| MedDRA | 10063435 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:846Alpha-thalassemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:95618Pituitary hormone deficiency secondary to storage disease
rare endocrine diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4823 | ENSG00000206172 | 141800 | 16p13.3 | hemoglobin subunit alpha 1 | |
| HBA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4824 | ENSG00000188536 | 141850 | 16p13.3 | hemoglobin subunit alpha 2 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 8.7 / 100 000 | United States | Value and class | Not yet validated | 21167500[PMID]_22766612[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | United States | Value and class | Validated | 21167500[PMID]_[EXPERT] |
| Annual incidence | >1 / 1000 | 1200 / 100 000 | South East Asia | Value and class | Not yet validated | 20301608[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93616
- This record as JSON: /data/d/93616.json