ORPHA:846
Alpha-thalassemia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-thalassemia | |
| fr | Alpha-thalassémie | Thalassémie alpha |
| de | Alpha-Thalassämie | |
| es | Alfa talasemia | |
| it | Alfa talassemia | |
| nl | Alfa-thalassemie | |
| pt | Alfa-talassemia | |
| pl | Talasemia alfa | |
| cs | Alfa-talasemie | |
| uk | Альфа-таласемія | |
| zh | α-地中海贫血 | |
| tr | Alfa-talasemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604131 | E | validated | |
| ICD-10 | D56.0 | E | specific | validated |
| ICD-11 | 3A50.0 | E | specific | validated |
| MONDO | 0011399 | E | validated | |
| MONDO | 11399 | E | validated | |
| MeSH | D017085 | E | validated | |
| UMLS | C0002312 | E | validated | |
| GARD | 621 | E | validated | |
| MedDRA | 10043390 | 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:275745Alpha-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders - ORPHA:93614Hematological disorder with renal involvement
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 10.3 / 100 000 | United States | Value and class | Validated | 19061217[PMID]_22766612[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | 25390741[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
23 annotations · validated 2023-08-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0001935 | Microcytic anemia | |
| Frequent (79-30%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0007430 | Generalized edema | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001698 | Pericardial effusion | |
| HP:0002202 | Pleural effusion | |
| HP:0001923 | Reticulocytosis | |
| Occasional (29-5%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001903 | Anemia | |
| HP:0004823 | Anisopoikilocytosis | |
| HP:0001081 | Cholelithiasis | |
| HP:0100543 | Cognitive impairment | |
| HP:0005507 | Hemoglobin Barts | |
| HP:0001878 | Hemolytic anemia | |
| HP:0001789 | Hydrops fetalis | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0001971 | Hypersplenism | |
| HP:0000952 | Jaundice | |
| HP:0010620 | Malar prominence | |
| HP:0002863 | Myelodysplasia | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301608[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/846
- This record as JSON: /data/d/846.json