Dominant beta-thalassemia

General Information (adopted from Orphanet):

Synonyms, Signs: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
Inclusion body beta-thalassemia
Number of Symptoms 6
OrphanetNr: 231226
OMIM Id: 603902
ICD-10: D56.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Beta-thalassemia
 -Rare endocrine disease
 -Rare genetic disease
 -Rare hematologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
2
(HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
3
(HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
4
(HPO:0001935) Microcytic anemia Very frequent [Orphanet] 32 / 7739
5
(HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
6
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weatherall et al. (1973) observed what appeared to be a hitherto unreported type of congenital anemia in 6 members of an Irish family. Inherited as an autosomal dominant, it was characterized by moderate anemia, lifelong jaundice, cholelithiasis and ...
Molecular genetics OMIM In affected members of the Swiss-French family reported by Stamatoyannopoulos et al. (1974), Fei et al. (1989) identified a glu121-to-ter mutation in the HBB gene (E121X; 141900.0314). The E121X mutation was also identified in a sporadic patient of ...