Hb Bart's hydrops fetalis

General Information (adopted from Orphanet):

Synonyms, Signs: NIHF HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED
HEMOGLOBIN H HYDROPS FETALIS SYNDROME, INCLUDED
Alpha-thalassemia major
Hemoglobin Bart&#39
s hydrops fetalis
Alpha-thalassemia hydrops fetalis
Homozygous alpha0-thalassemia
Number of Symptoms 17
OrphanetNr: 163596
OMIM Id: 236750
ICD-10: D56.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alpha-thalassemia
 -Rare genetic disease
 -Rare hematologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
2
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
3
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
4
 (HPO:0100603) Toxemia of pregnancy Frequent [Orphanet] 7 / 7739
5
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
6
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
7
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
8
 (HPO:0001635) Congestive heart failure Very frequent [Orphanet] 232 / 7739
9
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
10
 (HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
11
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
12
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
13
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
14
 (OMIM) No maternal-fetal incompatibility 3 / 7739
15
 (OMIM) Edema at birth 4 / 7739
16
 (OMIM) Congestive heart failure at birth 3 / 7739
17
 (OMIM) Anemia at birth 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety ...
Diagnosis OMIM Based on the findings of Bellini et al. (2009), Bellini et al. (2009) provided a diagnostic flow chart for the evaluation of nonimmune hydrops fetalis.
Clinical Description OMIM Idiopathic hydrops fetalis may represent about half of all cases of hydrops fetalis of nonimmunologic origin (i.e., not due to RH blood group incompatibility (111700) or other fetal-maternal incompatibility). Schwartz et al. (1981) listed causes of nonimmunologic hydrops ...
Population genetics OMIM The estimated number of worldwide annual births of patients with Hb Bart's hydrops is 5,183 (Modell and Darlison, 2008 and Weatherall, 2010).