Trait
HbS hemoglobin
Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.
Summary
- Also called
- HbS haemoglobin
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test5 genes linked to HbS hemoglobin
Changes in these genes cause rare conditions in which HbS hemoglobin is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| BCL11ABCL11 transcription factor A | Often (30–79%) | In 1 condition |
| HBBhemoglobin subunit beta | Often (30–79%) | In 2 conditions |
| HBG1hemoglobin subunit gamma 1 | Often (30–79%) | In 1 condition |
| HBG2hemoglobin subunit gamma 2 | Often (30–79%) | In 1 condition |
| KLF1KLF transcription factor 1 | Often (30–79%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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