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Newborn Screening ACT Sheet

[F (Fetal Hemoglobin) Only]
Beta Thalassemia Major

Differential Diagnosis: Homozygous beta thalassemia (thalassemia intermedia or major), hereditary persistence of fetal hemoglobin (HPFH), prematurity, normal variation in fetal hemoglobin expression, or mother with diabetes mellitus.

Condition Description: A red blood cell disorder characterized by a reduction in or lack of normal beta globin production and absence of Hb A (F [fetal Hb] only).

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family family to inform them of the screening result.
  • Evaluate infant, assess for splenomegaly, and do complete blood count (CBC) for Hb, red blood count (RBC), and mean corpuscular volume (MCV).
  • Order hemoglobin profile analysis (usually performed by electrophoresis).
  • Consult a specialist in hemoglobin disorders; if patient is anemic for age, refer immediately.
  • Initiate timely confirmatory/diagnostic testing as recommended by consultant.
  • Report findings to newborn screening program.


Diagnostic Evaluation:

Hemoglobin separation by electrophoresis, isoelectric focusing, or high performance liquid chromatography (HPLC), shows F-only pattern. DNA studies may be used to confirm genotype.

Clinical Considerations:

Infants with this finding are usually normal. With beta-thalassemia, severe anemia may develop in the first few months of life. Complications include growth retardation, intercurrent infections, progressive hepatosplenomegaly, skeletal abnormalities, and severe iron overload. Comprehensive care including family education, immunizations, regular transfusions, and prompt treatment of acute illness reduces morbidity and mortality.

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