Differences in the clinical and genotypic presentation of sickle cell disease around the world.
Differences in the clinical and genotypic presentation of sickle cell disease around the world.
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DOI：
10.1016/j.prrv.2013.11.003
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发表时间：
2014-03
影响因子：
5.8
通讯作者：
Gordeuk, Victor R.
中科院分区：
文献类型：
--
作者：
Saraf, Santosh L.;Molokie, Robert E.;Nouraie, Mehdi;Sable, Craig A.;Luchtman-Jones, Lori;Ensing, Gregory J.;Campbell, Andrew D.;Rana, Sohail R.;Niu, Xiao M.;Machado, Roberto F.;Gladwin, Mark T.;Gordeuk, Victor R.
镰状细胞病（SCD）是由β-珠蛋白基因HBB突变引起的，广泛分布于疟疾流行区。心脏病并发症是发病率和死亡率的主要原因。血红蛋白SS（Hb SS）在美洲、英国和非洲某些地区的SCD中占很大比例，而在布基纳法索观察到较高比例的血红蛋白SC，在希腊和印度观察到较高比例的血红蛋白Sβ-地中海贫血。在印度和中东的某些地区，观察到α-地中海贫血的共同遗传和血红蛋白F产生的持续性频率最高。如PUSH和Walk-PHaSST研究所证实，Hb SS、无共同遗传α-地中海贫血和低血红蛋白F水平往往与更多溶血、更低血红蛋白氧饱和度、更大比例的三尖瓣反流束速度和脑钠尿肽升高以及左心室质量指数升高相关。识别额外的遗传修饰因子将改善SCD心肺并发症的预测。
Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. Cardiopulmonary complications are major causes of morbidity and mortality. Hemoglobin SS (Hb SS) represents a large proportion of SCD in the Americas, United Kingdom, and certain regions of Africa while higher proportions of hemoglobin SC are observed in Burkina Faso and hemoglobin Sβ-thalassemia in Greece and India. Coinheritance of α-thalassemia and persistence of hemoglobin F production are observed in highest frequency in certain regions of India and the Middle East. As confirmed in the PUSH and Walk-PHaSST studies, Hb SS, absence of co-inheriting alpha-thalassemia, and low hemoglobin F levels tend to be associated with more hemolysis, lower hemoglobin oxygen saturations, greater proportions of elevated tricuspid regurgitant jet velocity and brain natriuretic peptide, and increased left ventricular mass index. Identification of additional genetic modifiers will improve prediction of cardiopulmonary complications in SCD.
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DOI：
10.5402/2011/748939
发表时间：
2011-01-01
期刊：
ISRN hematology
影响因子：
--
作者：
Chandrashekar, Vani;Soni, Mamta
通讯作者：
Soni, Mamta
影响因子：
12.8
作者：
Aliyu, Zakari Y.;Gordeuk, Victor;Gladwin, Mark T.
通讯作者：
Gladwin, Mark T.
影响因子：
2.4
作者：
ELHAZMI, MAF
通讯作者：
ELHAZMI, MAF
影响因子：
158.5
作者：
EMBURY, SH;DOZY, AM;MENTZER, WC
通讯作者：
MENTZER, WC
影响因子：
37.8
作者：
Di Angelantonio, Emanuele;Chowdhury, Rajiv;Danesh, John
通讯作者：
Danesh, John