New, extremely rare “Er” blood type has been confirmed by mutation in the PIEZO1 gene.

Researchers from the English healthcare system, NHS, have achieved confirmation of a mutation associated with an extremely rare blood type known as “Er”. It is well known that multiple blood types and the AB0 system exist, however, in recent decades, additional rare blood types have been found that are relevant to human health.

This finding was made following the complication of a pregnant patient who presented with bleeding during her pregnancy. Subsequently, the researchers identified the unusual blood type, and confirmed by Sanger sequencing a mutation that causes an altered sense mutation in the PIEZO1 gene.

This finding has great importance in health, as it allows to anticipate health problems associated with pregnancy complications, and blood incompatibility problems in transfusions.

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