Hemoglobin Genotype A/S-Oman
Dominant heterozygosity for the double HBB Glu6Val and Glu121Lys mutation.
Sickle Cell Disease Ontology Project
Term info
curator note
Request inclusion into relevant ontology
definition source
https://www.sciencedirect.com/science/article/pii/S014067361061029X, PMID: 9834244
Haemoglobin Genotype A/S-Oman, A/S-Oman Hemoglobin Genotype, A/S-Oman Haemoglobin Genotype, A/S-Oman Genotype
layperson description
A genotype whereby one of the genes coding for hemoglobin subunit beta produces hemoglobin beta chains for normal adult hemoglobin and the other gene produces the abnormal hemoglobin beta chains of hemoglobin S-Oman, which includes the classic beta S mutation (beta6 Glu> Val) and a beta121 Glu > Lys mutation identical to that of hemoglobin O-Arab. Individuals with this genotype have sickling red blood cells.