ORPHA:231214
Beta-thalassemia major
Synonyms: Beta transfusion dependent thalassemia · Beta-TDT · Cooley anemia · Mediterranean anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-thalassemia major | Beta transfusion dependent thalassemia · Beta-TDT · Cooley anemia · Mediterranean anemia |
| fr | Bêta-thalassémie majeure | Anémie de Cooley · Anémie méditerranéenne · Beta-thalassémie dépendante des transfusions · Thalassémie bêta majeure |
| de | Beta-Thalassämie major | Beta-TDT · Cooley-Anämie · Mittelmeeranämie · Transfusionsabhängige Beta-Thalassämie |
| es | Beta-talasemia mayor | Anemia de Cooley · Anemia mediterránea · Beta talasemia dependiente de transfusiones · TDT-Beta |
| it | Beta-talassemia major | Beta-TDT · Anemia di Cooley · Anemia mediterranea |
| nl | Beta-thalassemia major | Bèta-TDT · Cooley-anemie · Ernstige bèta-thalassemie · Mediterrane anemie · Transfusieafhankelijke bèta-thalassemie |
| pt | Beta-talassemia major | Beta-TDT · Anemia mediterrânica · Beta-talassemia dependente de transfusão · Anemia Cooley |
| pl | Beta-talasemia ciężka | Niedokrwistość Cooley'a · Niedokrwistość śródziemnomorska |
| cs | Beta-talasémie major | Cooleyova talasémie · Středomořská anémie |
| uk | Бета-таласемія мажорна | Анемія Кулі · Середземноморська анемія |
| zh | β-地中海贫血重型 | 地中海贫血 |
| tr | Beta-talasemi majör | Cooley anemisi · Akdeniz anemisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613985 | NTBT | validated | |
| ICD-10 | D56.1 | NTBT | attributed | validated |
| ICD-11 | 3A50.2 | NTBT | index | validated |
| MONDO | 0016486 | E | validated | |
| UMLS | C0002875 | 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:848Beta-thalassemia
rare genetic diseases; rare renal diseases; rare endocrine diseases; rare hematological diseases; rare transplant-related disorders
No children.
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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
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | United States | Value and class | Validated | 22766612[PMID] |
| Point prevalence | >1 / 1000 | 160 / 100 000 | Bahrain | Value and class | Validated | 24044606[PMID] |
| Point prevalence | 1-5 / 10 000 | 40 / 100 000 | Oman | Value and class | Validated | 11360093[PMID]_12934793[PMID] |
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
50 annotations · validated 2020-09-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010972 | Anemia of inadequate production | |
| HP:0004823 | Anisopoikilocytosis | |
| HP:0025547 | Decreased mean corpuscular hemoglobin concentration | |
| HP:0025066 | Decreased mean corpuscular volume | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0000980 | Pallor | |
| HP:0011904 | Persistence of hemoglobin F | |
| HP:0011905 | Reduced hemoglobin A | |
| Frequent (79-30%) | ||
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006487 | Bowing of the long bones | |
| HP:0002094 | Dyspnea | |
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0002857 | Genu valgum | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001971 | Hypersplenism | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0000939 | Osteoporosis | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002829 | Arthralgia | |
| HP:0031035 | Chronic infection | |
| HP:0001394 | Cirrhosis | |
| HP:0000823 | Delayed puberty | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002014 | Diarrhea | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002007 | Frontal bossing | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001722 | High-output congestive heart failure | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0040075 | Hypopituitarism | |
| HP:0000821 | Hypothyroidism | |
| HP:0000737 | Irritability | |
| HP:0000952 | Jaundice | |
| HP:0010620 | Malar prominence | |
| HP:0001954 | Recurrent fever | |
| HP:0200042 | Skin ulcer | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0004936 | Venous thrombosis | |
| Very rare (<4-1%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0011675 | Arrhythmia | |
| HP:0001402 | Hepatocellular carcinoma | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301599[PMID]_27811859[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231214
- This record as JSON: /data/d/231214.json