Homozygosity for the Mediterranean alpha-thalassemic deletion [hemoglobin Baits hydrops fetalis]
Annals of Saudi Medicine. 2010; 30 (2): 153-155
in English
| IMEMR
| ID: emr-99024
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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Syndrome
/
Hemoglobins
/
Hydrops Fetalis
/
Gene Deletion
/
Alpha-Thalassemia
/
Consanguinity
/
Stillbirth
/
Homozygote
Type of study:
Case report
Limits:
Female
/
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Ann. Saudi Med.
Year:
2010
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