Abstract
Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of α-thalassemia. We diagnosed a fetus at 23-weeks gestation with having hydrops fetalis, by ultrasound. At 32 weeks, intrauterine death was detected. Molecular studies revealed that the fetus had the hemoglobin Barts hydrops fetalis syndrome due to homozygosity for the Mediterranean α-thalassemia deletion. This clinical phenotype is generally rare in the Eastern Mediterranean, and this is the first report of this syndrome from Iraq. Techniques for molecular characterization became available only very recently in this country, in a diagnostic setting. Thus, the detection of further cases might be expected in future.
Highlights
Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of -thalassemia
Molecular studies revealed that the fetus had the hemoglobin Barts hydrops fetalis syndrome due to homozygosity for the Mediterranean -thalassemia deletion
This clinical phenotype is generally rare in the Eastern Mediterranean, and this is the first report of this syndrome from Iraq
Summary
Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of -thalassemia. Molecular studies revealed that the fetus had the hemoglobin Barts hydrops fetalis syndrome due to homozygosity for the Mediterranean -thalassemia deletion. This clinical phenotype is generally rare in the Eastern Mediterranean, and this is the first report of this syndrome from Iraq.
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