Homozygosity for the Mediterranean a-thalassemic deletion (hemoglobin Barts hydrops fetalis).
Homozygosity for the Mediterranean a-thalassemic deletion (hemoglobin Barts hydrops fetalis).
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DOI：
10.4103/0256-4947.60523
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发表时间：
2010-03
影响因子：
1.6
通讯作者：
Rasheed NS
中科院分区：
文献类型：
--
作者：
Al-Allawi NA;Shamdeen MY;Rasheed NS
血红蛋白 Barts 胎儿水肿综合征是 α-地中海贫血最严重且通常致命的临床表型。我们通过超声波诊断出一名妊娠 23 周的胎儿患有胎儿水肿。 32周时，发现宫内死亡。分子研究表明，由于地中海α-地中海贫血纯合性缺失，胎儿患有血红蛋白巴茨胎儿水肿综合征。这种临床表型在东地中海地区普遍罕见，这是伊拉克首次报告这种综合征。分子表征技术直到最近才在该国的诊断环境中可用。因此，预计未来可能会发现更多病例。
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.
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影响因子：
11.4
作者：
SHARMA, RS;YU, V;WALTERS, WAW
通讯作者：
WALTERS, WAW
影响因子：
1
作者：
Al-Allawi, Nasir A. S.;Badi, Ameer I. A.;Najmabadi, Hossein
通讯作者：
Najmabadi, Hossein
影响因子：
2.4
作者：
El-Kalla, S;Baysal, E
通讯作者：
Baysal, E
影响因子：
12.8
作者：
Oron-Karni, V;Filon, D;Rund, D
通讯作者：
Rund, D