Sickle cell disease (SCD): genetics and pathology

Genetic features

• This is caused by a mutation of the β-globin gene on chromosome 11
• The mutation is a valine substitution for glutamic acid on position 6
• The mutation causes sickle haemoglobin (HbS)
• The transmission is autosomal recessive
• There are four haplotypes in Africa
• There is one haplotype in Asia: Arab-Indian

References

1. Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol 2000; 151:839-845.
2. Hardouin G, Magrin E, Corsia A, Cavazzana M, Miccio A, Semeraro M. Sickle cell disease: from genetics to curative approaches. Annu Rev Genomics Hum Genet 2023; 24:255-275. 
3. Aduhene E, Cordy RJ. Sickle cell trait enhances malaria transmission. Nat Microbiol 2023 (Online ahead of print).

Related checklists

• Sickle cell disease (SCD): systemic features
• Sickle cell disease (SCD): neurological features
• Sickle cell disease (SCD): investigations
• Sickle cell disease (SCD): standard treatments
• Sickle cell disease (SCD): stroke treatment