ORPHA:46532

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Synonyms: HPFH-beta-thalassemia syndrome

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

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HPFH-beta-thalassemia syndrome
fr	Syndrome de persistance familiale de l'hémoglobine foetale-bêta-thalassémie	HPFH-bêta-thalassémie
de	Hereditäre Persistenz des fetalen Hämoglobins - beta-Thalassämie	HPFH - beta-Thalassämie
es	Síndrome de persistencia hereditaria de hemoglobina fetal-beta-talasemia	HPFH-beta-talasemia
it	Persistenza ereditaria di emoglobina fetale - beta talassemia	HPFH - beta talassemia
nl	Hereditaire persistentie van foetaal hemoglobine - bèta-thalassemie-syndroom	HPFH - bèta-thalassemie-syndroom
pt	Síndrome de persistência hereditária de hemoglobina fetal-beta-talassémia	Síndrome HPFH-beta-talassémia
pl	Zespół dziedzicznego przetrwania hemoglobiny płodowej - beta-talasemia	HPFH - beta-talasemia
cs	Syndrom zahrnující dědičnou perzistenci fetálního hemoglobinu a beta-talasémii	Syndrom zahrnující HPFH a beta-talasémii
uk	Спадкова персистенція синдрому фетальної гемоглобін-бета-таласемії	Синдром HPFH-бета-таласемії
zh	遗传性持续性胎儿血红蛋白综合征复合β地中海贫血综合征	HPFH-β地中海贫血综合征
tr	Kalıtsal persistans fetal hemoglobin-beta-talasemi sendromu	HPFH-beta-talasemi sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	141749	BTNT		validated
OMIM	142335	BTNT		validated
OMIM	142470	BTNT		validated
OMIM	305435	BTNT		validated
OMIM	613566	BTNT		validated
ICD-10	D56.4	NTBT	attributed	validated
ICD-11	3A50.4	E	specific	validated
MONDO	0018749	E		validated
UMLS	C0271994	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:275749Beta-thalassemia and related disorders
rare genetic diseases; rare hematological diseases; rare transplant-related disorders

No children.

Genes

4 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	19050890[PMID]
HBG1	Disease-causing germline mutation(s) in	Assessed	HGNC:4831	ENSG00000213934	142200	11p15.4	hemoglobin subunit gamma 1	6210198[PMID]_24144231[PMID]
HBG2	Disease-causing germline mutation(s) in	Assessed	HGNC:4832	ENSG00000196565	142250	11p15.4	hemoglobin subunit gamma 2	19050890[PMID]_24144231[PMID]_25435729[PMID]
KLF1	Disease-causing germline mutation(s) in	Assessed	HGNC:6345	ENSG00000105610	600599	19p13.13	KLF transcription factor 1	20676099[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

6 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001903	Anemia
HP:0000980	Pallor
HP:0011904	Persistence of hemoglobin F
HP:0001744	Splenomegaly
Frequent (79-30%)
HP:0003330	Abnormal bone structure
HP:0002240	Hepatomegaly

Run the differential on the 4 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/46532
This record as JSON: /data/d/46532.json