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NHS England Adds HT1 to Newborn Blood Spot Screening

The change follows expert advice to catch cases before symptoms for faster treatment.

Overview

  • All babies in England will now be tested for Hereditary Tyrosinaemia Type 1 as part of the routine day‑5 heel‑prick blood spot.
  • The addition follows a recommendation from the UK National Screening Committee to expand the NHS Newborn Blood Spot Screening Programme.
  • Early detection enables immediate treatment with Nitisinone alongside a tyrosine‑restricted diet to prevent long‑term complications.
  • Untreated HT1 can lead to severe liver and kidney damage, liver failure and increased risk of liver cancer, sometimes requiring transplant.
  • HT1 is rare—about seven UK cases each year—and NHS leaders urge families to discuss the test with their midwife, with patient stories highlighting the value of early diagnosis.