title: Homozygosity for the Mediterranean a-thalassemic deletion (hemoglobin Barts hydrops fetalis).
abstract: Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of alpha-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 alpha-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.
authors.affiliation: Department of Pathology, College of Medicine, University of Dohuk, Dohuk, Iraq. nallawi@yahoo.com
authors.forename: Nasir A S
authors.initials: NA
authors.lastname: Al-Allawi
authors.forename: Maida Y
authors.initials: MY
authors.lastname: Shamdeen
authors.forename: Najeeb S
authors.initials: NS
authors.lastname: Rasheed
mesh_terms: D003241:Consanguinity; D005260:Female; D017353:Gene Deletion; D006454:Hemoglobins / Q000032:analysis; D006720:Homozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D050497:Stillbirth / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography; D055815:Young Adult; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D006454:Hemoglobins