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Hemoglobin barts hydrops fetalis syndrome.

E Bowman¹, J Watts, R Burrows

¹Department of Pediatrics, McMaster University School of Medicine, Hamilton, Ontario, Canada.

Haematologia

|January 1, 1987

Summary

A case of fetal ascites due to homozygous alpha-thalassemia (Hb Barts hydrops fetalis) highlights the critical need for early screening. This genetic condition, identified through DNA analysis, necessitates improved prenatal diagnosis for at-risk couples.

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Area of Science:

Perinatal Medicine
Medical Genetics

Background:

Prenatal diagnosis of fetal abnormalities is crucial for managing high-risk pregnancies.
Alpha-thalassemia is a common inherited blood disorder, particularly in certain ethnic groups.

Observation:

A Vietnamese-Canadian woman at 31 weeks gestation presented with fetal ascites, diagnosed as non-immune hydrops fetalis.
Delivery via Caesarean section resulted in an infant with Hb Barts hydrops fetalis, who did not survive.
Fetal DNA analysis confirmed homozygous alpha-thalassemia, with deletion of all four alpha-globin genes.

Findings:

The infant's condition was attributed to inheriting alpha-thalassemia trait from both parents, resulting in the deletion of all four alpha-globin genes.
Both parents were identified as carriers of alpha-thalassemia trait, each with deletions on one chromosome.

Implications:

This case underscores the urgent need for a simple, accessible screening test for couples at risk of homozygous alpha-thalassemia.
Implementing such a screening test would enhance genetic counseling and prenatal diagnostic capabilities.
Improved screening and diagnosis can significantly elevate the quality of obstetric care for women carrying fetuses with this severe genetic condition.

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