SCID is a fatal condition if not treated.
There have been calls to screen babies for the rare disease severe combined immunodeficiency.
The condition is rare but screening for it would help reduce mortality rates.
Early detection, as well as quick treatment, can help lower mortality rates.
The heel prick test currently includes nine conditions, but experts believe adding SCID is key.
The HSE also wants to add Spinal Muscular Atrophy to the list of conditions screened.
What is SCID?
The inherited condition causes low or absent T-cell count. The low/absent cell count makes it extremely difficult for an infant to fight infection.
Treatment is available but early detection is key.
Experts said the condition is often fatal in the first year of a baby’s life without it.
Doctors can treat the condition with an allogeneic hematopoietic stem cell transplant.
Minister for Health Stephen Donnelly has agreed with HIQA’s findings. He fully supports the addition of testing for SCID.
Cases are often identified by family history.
It is also detected through the development of infections.
Screening for SCID would also facilitate earlier disease management as well as treatment.
The screening, done via a heel prick test, screens for 9 serious conditions including;
- Adenosine Deaminase Deficiency Severe Combined Immunodeficiency (ADA-SCID)
- Classical Galactosaemia
- Congenital hypothyroidism (CHT)
- Cystic fibrosis (CF)
- Glutaric aciduria type 1 (GA1)
- Homocystinuria (HCU)
- Maple syrup urine disease
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- Phenylketonuria (PKU)