Alpha-thalassemia major presenting in a term neonate without hydrops

Area of Science:

• Medical Genetics
• Neonatology
• Hematology

Background:

• Alpha-thalassemia major is a severe inherited blood disorder typically associated with hydrops fetalis and intrauterine fetal demise.
• Diagnosis is often presumed antenatally or suspected in neonates presenting with hydrops.

Observation:

• A neonate with alpha-thalassemia major survived to term and lived for 9 days.
• The neonate presented with severe hypoxia and pulmonary hypertension but lacked hydrops fetalis.
• The diagnosis was unexpected, identified postnatally via blood smear examination.

Findings:

• Hemoglobin electrophoresis and molecular testing confirmed alpha-thalassemia major.
• This case demonstrates a non-hydropic presentation of alpha-thalassemia major.

Implications:

• Alpha-thalassemia major should be included in the differential diagnosis for neonates with severe hypoxia and pulmonary hypertension, irrespective of hydrops status.
• This case broadens the clinical spectrum recognized for alpha-thalassemia major.
• Highlights the utility of postnatal blood smear examination for diagnosing severe hemoglobinopathies.