Neonatal Hemoglobin Electrophoresis

Normal haemoglobin electrophoresis in a newborn shows predominantly fetal hemoglobin (Hb F) — typically about 60–90% of total hemoglobin — with a smaller amount of adult hemoglobin A (Hb A), usually around 10–40%. Hb A2 is minimal or absent. No abnormal hemoglobins (e.g., Hb S, C) should be detected; presence of such variants suggests a haemoglobinopathy requiring follow-up.

A positive hemoglobin electrophoresis indicates an abnormal hemoglobin variant or thalassemia. Confirmatory tests (repeat electrophoresis, CBC, hemoglobin fraction quantification, iron studies or DNA testing) and clinical evaluation are needed. Refer to a hematologist, arrange family/genetic counseling and testing, discuss inheritance and reproductive options, and start appropriate monitoring or treatment based on severity (e.g., vaccinations, transfusion plans, hydroxyurea).

Hemoglobin electrophoresis identifies and measures different hemoglobin types and their relative amounts (A, A2, F, and variant forms such as S, C, E). It detects hemoglobinopathies—sickle cell disease/trait, thalassemias and other abnormal hemoglobins—helps explain unexplained anemia, guides newborn screening, genetic counseling and treatment decisions by distinguishing carrier states from disease and quantifying fetal hemoglobin.

Hemoglobin electrophoresis is routinely performed as part of newborn screening in the first week of life to detect sickle cell and other hemoglobinopathies. Because high fetal hemoglobin can mask adult variants, a definitive electrophoresis is often repeated or done after about 6 months of age. It may also be performed at any age if family history, abnormal blood counts, or symptoms suggest a hemoglobin disorder.

Thalassemia in newborns is detected by newborn screening using a heel‑prick or cord blood sample: a complete blood count to detect microcytic anemia followed by hemoglobin separation (HPLC or electrophoresis). Abnormal findings lead to confirmatory molecular genetic testing for globin gene mutations, reticulocyte count, and referral to a hematologist and genetic counseling for diagnosis and management.

Hemoglobinopathies are inherited disorders causing abnormal hemoglobin. In babies they cause anemia, jaundice, poor feeding and slow growth. Sickle cell disease causes pain crises, severe infections, splenic dysfunction and stroke risk; severe thalassemias may require regular transfusions and cause growth delay. Newborn screening, vaccinations, infection prevention, monitoring and treatments (transfusions, chelation, hydroxyurea) improve outcomes.