HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION ISUNKNOWN OR UNCERTAIN

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 142309
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004825) Increased hemoglobin oxygen affinity 1 / 7739
2
(HPO:0004863) Compensated hemolytic anemia 2 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Deficient synthesis of alpha-1 and/or alpha-2 chains (e.g. Bart's) 1 / 7739
5
(OMIM) Increased oxygen affinity and compensated hemolytic anemia (e.g. Hb St. Mary's) 1 / 7739
6
(OMIM) Tetramer of beta chains (e.g. Hb H) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: