[Major alpha-thalassemia: antenatal diagnosis, case report and literature review]

Area of Science:

• Medical Genetics
• Fetal Medicine
• Obstetrics

Background:

• Homozygous alpha-thalassaemia (Bart's hydrops fetalis) is a severe autosomal recessive genetic disorder.
• It leads to fetal lethality due to severe anemia and hypoxia.
• Maternal complications include an increased risk of severe preeclampsia.

Observation:

• Diagnosis is suspected with suggestive ultrasonographic findings in fetuses of parents from South-East Asia or China.
• A rare case presented with fetal growth retardation, cardiomegaly, and enlarged placenta at 26 weeks gestation.
• Molecular genetic analysis confirms alpha globin gene deletions or mutations.

Findings:

• The case highlights the importance of recognizing Bart's hydrops fetalis through specific fetal anomalies.
• Molecular confirmation relies on identifying characteristic alpha globin gene alterations.
• This condition poses significant risks to both the fetus and the mother.

Implications:

• Increased awareness and inclusion of alpha thalassemias in medical and midwifery curricula are essential.
• Early diagnosis can guide management strategies and improve maternal outcomes.
• Genetic counseling and screening are vital for at-risk populations.