ORPHA:163596
Hemoglobin Bart's fetalis syndrome
Synonyms: HBHF · Haemoglobin Bart's disease · Haemoglobin Bart's hydrops fetalis · Hb Bart's hydrops fetalis syndrome · Hemoglobin Bart's disease · Hemoglobin Bart's hydrops fetalis · Homozygous alpha0-thalassemia · Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major · BHFS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin Bart's fetalis syndrome | HBHF · Haemoglobin Bart's disease · Haemoglobin Bart's hydrops fetalis · Hb Bart's hydrops fetalis syndrome · Hemoglobin Bart's disease · Hemoglobin Bart's hydrops fetalis · Homozygous alpha0-thalassemia · Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major · BHFS |
| fr | Hydrops fetalis de Bart | Alpha-thalassémie majeure · Anasarque foetoplacentaire de Bart · Anasarque foetoplacentaire liée à l'hémoglobine Bart · Hémoglobinose de Bart · Thalassémie alpha majeure |
| de | Hb-Bart´s Hydrops fetalis-Syndrom | Alpha-Thalassämie Hydrops fetalis · Alpha-Thalassämie major · Alpha0-Thalassämie, homozygote · BHFS · HBHF · Hb-Bart-Syndrom · Hb-Barts · Hydrops fetalis Bart · Hämoglobin Barts |
| es | Hidropesía fetal con Hb de Bart | Alfa-talasemia mayor · BHFS · Enfermedad de Bart por hemoglobina · HBHF · Hidropesía fetal por alfa-talasemia · Hidropesía fetal por hemoglobina de Bart · Síndrome de hidropesía fetal por Hb de Bart · Talasemia alfa-0 homocigótica |
| it | Sindrome fetale da emoglobina di Bart | Alfa talassemia-idrope fetale · BHFS · Malattia dellâemoglobina di Bart · Sindrome idrope fetale da emoglobina di Bart · Idrope fetale da emoglobina di Bart · Emoglobinopatia di Bart · Alfa0-talassemia omozigote · Alfa-talassemia idrope fetale · Alfa-talassemia major · HBHF · Idrope fetale da Hb di Bart |
| nl | Hemoglobine Bart's hydrops foetalis-syndroom | Alfa-thalassemie - hydrops foetalis · Alfa-thalassemie major · BHFS · HBHF · Hb-Bart's hydrops foetalis · Hemoglobine Bart's hydrops foetalis · Hemoglobine Bart's ziekte · Homozygote alfa-0-thalassemie |
| pt | Síndrome fetal de hemoglobina Bart | HBHF · Hidropsia fetal alfa-talassémia · Hidrópsia fetal de Bart · Hidrópsia fetal de hemoglobina Bart · Homozigosidade alfa0-talassémia · Síndrome de hidrópsia fetal de hemoglobina Bart · Síndrome de hidrópsia fetal Hb Bart · Alfa-talassémia major · BHFS · Doença de hemoglobina Bart |
| pl | Zespół płodowy hemoglobiny Barta | Alfa-talasemia ciężka · Alfa-talasemia homozygotyczna · Alfa-talasemia obrzęk płodu · Hemoglobina Barta obrzęk płodu |
| cs | Alfa-talasemie major | Alfa-talasemie hydrops fetalis · Hb Bart's hydrops fetalis · Hemoglobin Bart’s hydrops fetalis · Homozygotní alfa talasemie · Hb Bartův fetální hydropsový syndrom · Hb Bartův hydrops fetalis · Hemoglobin Bartův hydrops fetalis |
| uk | Гемоглобінова водянка плода Барта | Альфа-таласемія hydrops fetalis · Альфа-таласемія поширена · Гемоглобін Барта - hydrops fetalis · Гомозиготна альфа0-таласемія |
| zh | HbBart's 胎儿水肿综合征 | 血红蛋白Bart's胎儿水肿 |
| tr | Hb Bart hidrops fetalisi | Alfa talasemi majör · Homozigot alfa0-talasemi · Alfa talasemi hidrops fetalis · Hemoglobin Bart'ın hidrops fetalisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236750 | NTBT | validated | |
| ICD-10 | D56.0 | NTBT | attributed | validated |
| ICD-11 | 3A50.03 | NTBT | index | validated |
| MONDO | 0015579 | E | validated | |
| UMLS | C0272005 | E | validated |
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:846Alpha-thalassemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4823 | ENSG00000206172 | 141800 | 16p13.3 | hemoglobin subunit alpha 1 | |
| HBA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4824 | ENSG00000188536 | 141850 | 16p13.3 | hemoglobin subunit alpha 2 |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 275 / 100 000 | South East Asia | Value and class | Validated | 19459517[PMID]_2351917[PMID]_ [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 7.6 / 100 000 | United States | Value and class | Validated | 21167500[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.
6
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0001903 | Anemia | |
| HP:0001635 | Congestive heart failure | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000980 | Pallor | |
| Frequent (79-30%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0001562 | Oligohydramnios | |
| HP:0001561 | Polyhydramnios | |
| HP:0100602 | Preeclampsia | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001701 | Pericarditis | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163596
- This record as JSON: /data/d/163596.json