Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Synonyms: HPFH-sickle cell disease syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | HPFH-sickle cell disease syndrome |
| fr | Syndrome héréditaire de persistance de l'hémoglobine foetale-drépanocytose | HPFH-drépanocytose |
| de | Hereditäre Persistenz des fetalen Hämoglobins mit Sichelzellkrankheit | |
| es | Síndrome de persistencia hereditaria de la hemoglobina fetal-anemia falciforme | |
| it | Sindrome persistenza ereditaria dell'emoglobina fetale-anemia a cellule falciformi | |
| nl | Hereditaire persistentie van foetaal hemoglobine - sikkelcelziekte-syndroom | HPFH - sikkelcelziekte-syndroom |
| pt | Persistência de hemoglobina fetal hereditária - doença de células falciformes | |
| pl | Dziedziczne przetrwanie hemoglobiny płodowej - niedokrwistość sierpowata | HPFH - niedokrwistość sierpowata |
| cs | Syndrom zahrnující dědičnou perzistenci fetálního hemoglobinu a srpkovitou anémii | Syndrom zahrnující HPFH a srpkovitou anémii |
| uk | Синдром спадкової персистенції фетального гемоглобіну-серповидноклітинної анемії | Синдром серповидноклітинної анемії HPFH |
| zh | 遗传性持续性胎儿血红蛋白-镰状细胞病综合征 | HPFH-镰状细胞病综合征 |
| tr | Fetal hemoglobin-orak hücre hastalığı sendromunun kalıtsal kalıcılığı | HPFH-orak hücre hastalığı 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 | D57.2 | NTBT | attributed | validated |
| ICD-11 | 3A51.3 | NTBT | index | validated |
| MONDO | 0016672 | E | validated | |
| UMLS | C5190890 | 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):
Parents in the classifications (1):
- ORPHA:275752Sickle cell disease
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCL11A | Candidate gene tested in | Not yet assessed | HGNC:13221 | ENSG00000119866 | 606557 | 2p16.1 | BCL11 transcription factor A | |
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 20301551[PMID] |
| HBG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4831 | ENSG00000213934 | 142200 | 11p15.4 | hemoglobin subunit gamma 1 | 8598197[PMID]_2468996[PMID] |
| HBG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4832 | ENSG00000196565 | 142250 | 11p15.4 | hemoglobin subunit gamma 2 | 8598197[PMID]_2468996[PMID] |
| KLF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6345 | ENSG00000105610 | 600599 | 19p13.13 | KLF transcription factor 1 | 20676099[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10.6 / 100 000 | United States | Value and class | Validated | 22766612[PMID] |
| Point prevalence | Unknown | — | Europe | 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
13 annotations · validated 2022-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011904 | Persistence of hemoglobin F | |
| Frequent (79-30%) | ||
| HP:0045047 | HbS hemoglobin | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002829 | Arthralgia | |
| HP:0001746 | Asplenia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0008346 | Increased red cell sickling tendency | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0001923 | Reticulocytosis | |
| HP:0000488 | Retinopathy | |
| HP:0032169 | Severe infection | |
| HP:0034336 | Splenic infarction | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30777489[PMID]_32072665[PMID]_22017641[PMID]_2454649[PMID]_27117574[PMID]_23281181[PMID]_6196049[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251380
- This record as JSON: /data/d/251380.json