Newborn blood spot screening to significantly improve outcomes for children with HT1
Families across England will benefit from enhanced early detection of Hereditary Tyrosinaemia Type 1 (HT1), a rare but treatable genetic disorder.
Newborn blood spot screening, which is offered to newborn babies in England will now include testing for HT1, significantly improving clinical outcomes for those diagnosed with the condition.
This important development is thanks to the expertise and contribution of the Newborn Screening and Biochemical Genetics (NSBG) team at Birmingham Women’s and Children’s NHS Foundation Trust (BWC).
Without screening, babies with HT1 may develop symptoms such as poor weight gain, jaundice, an enlarged liver, bleeding, and bruising, which can lead to liver and kidney damage.
Screening identifies these infants before symptoms appear, allowing for early treatment with medication and a special diet, significantly reducing the risk of long-term complications.
Dr Philippa Goddard, Consultant Biochemist and Director of Newborn Screening said: "Significant effort has gone into implementing this new test and we are very grateful to all colleagues in the NSBG department for their invaluable contributions and support over the past year.
“Their dedication has been essential in ensuring that babies across England benefit from this important addition to the NHS newborn blood spot screening programme.
She added: "Newborn screening for Hereditary Tyrosinemia Type 1 (HT1) enables early diagnosis and timely treatment, significantly improving clinical outcomes.
"Early identification reduces incidences of severe liver disease in affected infants in the early months of life and potentially may also decrease the number of children requiring liver transplantation later in life."
This test will be added to the current screening panel of six inherited metabolic disorders: Phenylketonuria (PKU), Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Maple Syrup Urine Disease (MSUD), Isovaleric Acidaemia (IVA), Glutaric Aciduria Type 1 (GA1), and Homocystinuria (HCU), as well as Sickle Cell Disease (SCD), Cystic Fibrosis (CF), Congenital Hypothyroidism (CHT), and Severe Combined Immunodeficiency Disorder (SCID).
In the West Midlands, newborn bloodspot screening is conducted at BWC which is one of the leading Newborn Bloodspot screening laboratories in the UK.
This vital service provides early diagnosis for babies, identifying health conditions that might not be immediately apparent but can be treated effectively. Early detection plays a crucial role in preventing serious health problems and improving long-term outcomes and quality of life.