ORPHA:330032

Hemoglobin Lepore-beta-thalassemia syndrome

Synonyms: HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: No data available
Status: active

A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hemoglobin Lepore-beta-thalassemia syndrome	HbLepore-beta-thalassemia syndrome · Lepore-beta-thalassemia syndrome
fr	Hémoglobine Lepore-bêta-thalassémie	HbLepore-bêta-thalassémie · Lepore-bêta-thalassémie · Thalassémie bêta-Hb Lepore · Thalassémie bêta-hémoglobine Lepore
de	Hämoglobin Lepore-Beta-Thalassämie-Syndrom	HbLepore - Beta-Thalassämie
es	Síndrome de hemoglobina Lepore-beta-talasemia	Hb Lepore-beta-talasemia · Lepore-beta-talasemia
it	Sindrome emoglobina Lepore-beta talassemia	HbLepore - beta talassemia · Lepore - beta talassemia
nl	Lepore-hemoglobine - bèta-thalassemie-syndroom	HbLepore - bèta-thalassemie-syndroom · Lepore - bèta-thalassemie-syndroom
pt	Hemoglobina Lepore - beta-talassemia
pl	Hemoglobina Lepore - beta-talasemia	HbLepore - beta-talasemia · Lepore - beta-talasemia
cs	Syndrom zahrnující beta talasémii s hemoglobinem Lepore	= en
uk	Синдром гемоглобіну Лепора-бета-таласемії	Синдром HbLepore-бета-таласемії · Синдром лепоро-бета-таласемії
zh	血红蛋白性乙型β地中海贫血综合征	Hb乙型-β-地中海贫血综合征
tr	Hemoglobin Lepore-beta-talasemi sendromu	Lepore-beta-talasemi sendromu · HbLepore-beta-talasemi sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D56.8	NTBT	attributed	validated
ICD-11	3A50.2	NTBT	attributed	validated
MONDO	0018022	E		validated
UMLS	C5679855	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:231230Beta-thalassemia associated with another hemoglobin anomaly
rare genetic diseases; rare hematological diseases; rare transplant-related disorders

Children (2):

Genes

0 direct · 4 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HBB	ORPHA:715135Hemoglobin Lepore-beta-thalassemia intermedia	Part of a fusion gene in	Assessed	HGNC:4827	ENSG00000244734	141900	11p15.4	hemoglobin subunit beta	18932069[PMID]
HBB	ORPHA:715140Hemoglobin Lepore-beta-thalassemia major	Part of a fusion gene in	Assessed	HGNC:4827	ENSG00000244734	141900	11p15.4	hemoglobin subunit beta	18932069[PMID]
HBD	ORPHA:715135Hemoglobin Lepore-beta-thalassemia intermedia	Part of a fusion gene in	Assessed	HGNC:4829	ENSG00000223609	142000	11p15.4	hemoglobin subunit delta	18932069[PMID]
HBD	ORPHA:715140Hemoglobin Lepore-beta-thalassemia major	Part of a fusion gene in	Assessed	HGNC:4829	ENSG00000223609	142000	11p15.4	hemoglobin subunit delta	18932069[PMID]

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.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/330032
This record as JSON: /data/d/330032.json