raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:231222

Beta-thalassemia intermedia

Synonyms: Beta-NTDT · Non-transfusion dependent beta-thalassemia

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Childhood
Status
active

Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enBeta-thalassemia intermediaBeta-NTDT · Non-transfusion dependent beta-thalassemia
frBêta-thalassémie intermédiaireBêta-thalassémie non dépendante des transfusions · Thalassémie bêta intermédiaire
deBeta-Thalassämie intermediaBeta-NTDT · Nicht-transfusionsabhängige Beta-Thalassämie
esBeta-talasemia intermediaTNDT-Beta · Talasemia no dependiente de transfusión Beta
itBeta talassemia intermediaBeta-NTDT · Beta-talassemia non trasfuzionale
nlBeta-thalassemia intermediaBèta-NTDT · Intermediaire bèta-thalassemie · Transfusieonafhankelijke bèta-thalassemie
ptBeta-talassemia intermédiaBeta-NTDT · Beta-talassemia não-dependente de transfusão
plBeta-talasemia pośrednia= en
csBeta-talasémie intermedia= en
ukБета-таласемія інтермедіальна
zhβ-地中海贫血中间型
trBeta-talasemi intermedia

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM613985NTBTvalidated
ICD-10D56.1NTBTattributedvalidated
ICD-113A50.2NTBTindexvalidated
MONDO0016487Evalidated
UMLSC0472767Evalidated
MedDRA10062923Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

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.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
HBBDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta21886666[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

36 annotations · validated 2020-01-31
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0010972Anemia of inadequate production
HP:0025066Decreased mean corpuscular volume
HP:0000939Osteoporosis
HP:0011904Persistence of hemoglobin F
Frequent (79-30%)
HP:0011031Abnormality of iron homeostasis
HP:0000924Abnormality of the skeletal system
HP:0012132Erythroid hyperplasia
HP:0001978Extramedullary hematopoiesis
HP:0100724Hypercoagulability
HP:0045048Increased HbA2 hemoglobin
HP:0002659Increased susceptibility to fractures
HP:0000952Jaundice
HP:0000980Pallor
HP:0004349Reduced bone mineral density
HP:0200042Skin ulcer
Occasional (29-5%)
HP:0001626Abnormality of the cardiovascular system
HP:0001392Abnormality of the liver
HP:0001081Cholelithiasis
HP:0001410Decreased liver function
HP:0012465Elevated hepatic iron concentration
HP:0002240Hepatomegaly
HP:0001433Hepatosplenomegaly
HP:0001722High-output congestive heart failure
HP:0001974Increased total leukocyte count
HP:0000938Osteopenia
HP:0000114Proximal tubulopathy
HP:0002092Pulmonary arterial hypertension
HP:0001744Splenomegaly
Very rare (<4-1%)
HP:0000846Adrenal insufficiency
HP:0001394Cirrhosis
HP:0000819Diabetes mellitus
HP:0001402Hepatocellular carcinoma
HP:0000135Hypogonadism
HP:0000829Hypoparathyroidism
HP:0000821Hypothyroidism
HP:0002176Spinal cord compression

Run the differential on the 4 obligate / very frequent terms

Annotation source: 29458726[PMID]_27811859[PMID]_29380178[PMID]_20098328[PMID]

7

Sources for this card