C major variations | Nature Reviews Genetics

Access through your institution Buy or subscribe HbC is a common West African haemoglobin variant in which glutamic acid at position 6 has been mutated to lysine but, unlike the HbS

mutation, this substitution does not affect the molecule's affinity for oxygen. Following inconclusive reports about the role of HbC in resistance to malaria, Modiano _et al_.

re-examined the issue by looking at HbC frequency among 4,348 children in West African Burkina Faso. The authors found that HbC frequency was markedly reduced among 835 children who had been

hospitalized with malaria; moreover, there was only one HbC homozygous individual among them. HbC frequency in the sick population indicates that, when heterozygous, HbC could account for a

29% reduction in the relative risk of clinical malaria and 93% when homozygous — compared to 70% reduction among HbS carriers. Given the very high level of protection that HbC bestows on

homozygous individuals, and the lack of obvious adverse effects among HbC carriers, Modiano and colleagues suggest that the allele is likely to rise in frequency among Africans, and will

perhaps even replace the HbS variant in Africa. But because its protective effects mainly manifest themselves in homozygotes, the spread of the allele is likely to be slow. It will also be

useful to understand the mechanism behind the protection afforded by HbC — this might provide some new insight into the biology of malaria and potentially lead to new treatments. This is a

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during checkout ADDITIONAL ACCESS OPTIONS: * Log in * Learn about institutional subscriptions * Read our FAQs * Contact customer support REFERENCES ORIGINAL RESEARCH PAPER * Modiano, D. et

al. Haemoglobin C protects against clinical _Plasmodium falciparum_ malaria. _Nature_ 414, 305–308 (2001) Article  CAS  Google Scholar  FURTHER READING * Hill, A. V. S. & Cooke, G.

Genetics of susceptibility to infectious diseases. _Nature Rev. Genet._ 2, 967–977 (2001) Article  Google Scholar  Download references Authors * Magdalena Skipper View author publications

You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Skipper, M. C major variations. _Nat Rev

Genet_ 3, 4 (2002). https://doi.org/10.1038/nrg707 Download citation * Issue Date: 01 January 2002 * DOI: https://doi.org/10.1038/nrg707 SHARE THIS ARTICLE Anyone you share the following

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