Phenotypes associated with the disease hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain (OMIM:142309):
- Compensated hemolytic anemia (HP:0004863). Evidence: TAS. (OMIM:142309)
- Increased hemoglobin oxygen affinity (HP:0004825): An abnormal increase in the binding affinity of hemoglobin for oxygen. Evidence: IEA. (OMIM:142309)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:142309)