ORPHA:231226
Unstable beta globin chain variant disease
Synonyms: Autosomal dominant beta-thalassemia · Inclusion body beta-thalassemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unstable beta globin chain variant disease | Autosomal dominant beta-thalassemia · Inclusion body beta-thalassemia |
| fr | Anémie par hémoglobine instable due à la chaîne beta globine | Bêta-thalassémie autosomique dominante · Bêta-thalassémie à corps d'inclusion · Thalassémie bêta dominante · Thalassémie bêta à corps d'inclusion |
| de | Instabile Beta-Globinketten-Variante | Beta-Thalassämie mit Einschlusskörpern · Beta-Thalassämie, autosomal-dominante |
| es | Enfermedad por inestabilidad de la variante de la cadena beta-globina inestable | Beta-talasemia autosómica dominante · Beta-talasemia con cuerpos de inclusión |
| it | Malattia da variante instabile della catena della beta-globina | Beta talassemia autosomica dominante · Beta talassemia con corpi di inclusione |
| nl | Aandoening door onstabiele variant van bèta-globineketen | Bèta-thalassemie met inclusielichaampjes · 'Inclusion body'-bètathalassemie · Autosomaal dominante bèta-thalassemie |
| pt | Doença da variante instável da cadeia beta da globina | Beta-talassemia beta autossómica dominante · Beta-talassémia de corpos de inclusão |
| pl | Choroba z niestabilnym wariantem łańcucha beta-globiny | Beta-talasemia z ciałkami wtrętowymi |
| cs | Dominantní beta-talasémie | = en |
| uk | Домінантна бета-таласемія | Бета-таласемія з інклюзивними тілами |
| zh | 显性β-地中海贫血 | 包涵体β-地中海贫血 |
| tr | Dominant beta-talasemi | İnklüzyon cisimcikli beta-talasemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603902 | E | validated | |
| ICD-10 | D56.1 | NTBT | attributed | validated |
| ICD-11 | 3A50.2 | NTBT | index | validated |
| MONDO | 0011381 | E | validated | |
| MeSH | C565834 | E | validated | |
| UMLS | C1858990 | 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 (1):
- ORPHA:275749Beta-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99139OBSOLETE: Unstable hemoglobin disease referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21886666[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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
49 annotations · validated 2020-09-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011904 | Persistence of hemoglobin F | |
| HP:0011905 | Reduced hemoglobin A | |
| Frequent (79-30%) | ||
| HP:0011273 | Anisocytosis | |
| HP:0025547 | Decreased mean corpuscular hemoglobin concentration | |
| HP:0025066 | Decreased mean corpuscular volume | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0001971 | Hypersplenism | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002829 | Arthralgia | |
| HP:0006487 | Bowing of the long bones | |
| HP:0200123 | Chronic hepatitis | |
| HP:0031035 | Chronic infection | |
| HP:0001394 | Cirrhosis | |
| HP:0000823 | Delayed puberty | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002014 | Diarrhea | |
| HP:0002094 | Dyspnea | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002857 | Genu valgum | |
| HP:0001510 | Growth delay | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0040075 | Hypopituitarism | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0000821 | Hypothyroidism | |
| HP:0000737 | Irritability | |
| HP:0000952 | Jaundice | |
| HP:0000939 | Osteoporosis | |
| HP:0001954 | Recurrent fever | |
| HP:0200042 | Skin ulcer | |
| HP:0001744 | Splenomegaly | |
| HP:0004936 | Venous thrombosis | |
| Very rare (<4-1%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0011675 | Arrhythmia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002007 | Frontal bossing | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0001722 | High-output congestive heart failure | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0010620 | Malar prominence | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20492708[PMID]_20301599[PMID]_27811859[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231226
- This record as JSON: /data/d/231226.json