Newborn Screening (NBS) – 5 Biochemical + Hemoglobinopathies Test

Newborn Screening (NBS) is a crucial early diagnostic tool used to detect inherited metabolic disorders and hemoglobinopathies in newborns. The NBS 5 Biochemical + Hemoglobinopathies Test screens for five key metabolic conditions along with disorders affecting hemoglobin production. Early detection enables timely intervention, preventing severe complications and improving long-term health outcomes.

Metabolic disorders and hemoglobinopathies are often asymptomatic at birth, making early screening essential for prompt treatment and management. Conditions such as amino acid disorders, organic acidemias, and fatty acid oxidation disorders can be life-threatening if untreated, while hemoglobinopathies like sickle cell disease and thalassemia can lead to chronic health issues.

Conditions screened in the NBS 5 Biochemical + Hemoglobinopathies Test include

1. Phenylketonuria (PKU) – A disorder that prevents the metabolism of phenylalanine, leading to intellectual disabilities if untreated.
2. Congenital Hypothyroidism (CH) – A deficiency in thyroid hormone production, which can cause growth and developmental delays.
3. Galactosemia – A metabolic disorder affecting the ability to process galactose, potentially leading to liver damage and cataracts.
4. Maple Syrup Urine Disease (MSUD) – A defect in the metabolism of branched-chain amino acids, causing neurological damage.
5. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) – A disorder affecting fatty acid metabolism, leading to low blood sugar and energy crises.
6. Hemoglobinopathies:

·         Sickle Cell Disease (SCD) – A genetic disorder causing abnormal hemoglobin formation, leading to anemia, pain crises, and organ damage.

Beta-Thalassemia and Alpha-Thalassemia – Disorders that affect hemoglobin production, leading to chronic anemia and growth delays.