Sickle Cell Disease Subphenotypes in Patients From Southwestern Province of Saudi Arabia
Sickle Cell Disease Subphenotypes in Patients From Southwestern Province of Saudi Arabia
复制标题
DOI：
10.1097/mph.0b013e3182422844
复制
发表时间：
2012-03-01
影响因子：
1.2
通讯作者：
Al-Momen, AbdelKareem M.
中科院分区：
文献类型：
--
作者：
Alsultan, Abdulrahman;Aleem, Aamer;Al-Momen, AbdelKareem M.
镰状细胞病（SCD）在沙特阿拉伯的东部和西南部（SW）省很常见。我们研究了西南省159例SCD患者，以更好地表征其表型，那里的患者通常具有非洲血统的HBB单倍型。所有病例均有病史、检查、病历复习和实验室检测。在稳定状态下进行血液检查，包括：全血细胞计数、网织红细胞、血红蛋白电泳、乳酸脱氢酶和G6PD水平。还测定了HBB单倍型和α -地中海贫血的存在。SCD各种并发症的发生率如下：大多数患者（98%）发生不同程度的疼痛发作，骨坏死（14%），急性胸综合征（22%），脾隔离（23%），胆结石（34%），中风（7.5%），阴茎勃起（2.6%），严重感染（11.5%），5岁以上持续脾肿大（11%）。无患者腿部溃疡。哮喘病史和高稳态白细胞计数与急性胸综合征的风险增加有关。地中海贫血的共遗传与胆结石的发生率较低有关。较高的胎儿血红蛋白水平与持续性脾肿大有关，但与其他并发症无关。脾隔离在男性中更为常见，并与较低的稳态血红蛋白相关。SCD在西南省的表型是可变的，与非裔美国人相当，除了罕见的阴茎勃起和没有腿部溃疡。胎儿血红蛋白水平与SCD血管闭塞并发症无关。新的遗传修饰因子和环境因素可能调节沙特阿拉伯SCD的表型。
Sickle cell disease (SCD) is common in the Eastern and Southwestern (SW) Provinces of Saudi Arabia. We studied 159 patients with SCD to better characterize its phenotype in the SW Province, where patients usually have a HBB haplotype of African origin. All cases had history and examination, chart review, and laboratory testing. Blood tests were obtained during steady state and included: complete blood count, reticulocytes, hemoglobin electrophoresis, lactate dehydrogenase, and G6PD level. HBB haplotype and presence of alpha-thalassemia were also determined. Frequency of various SCD complications was as follows: painful episodes of variable severity occurred in majority of patients (98%), osteonecrosis (14%), acute chest syndrome (22%), splenic sequestration (23%), gallstones (34%), stroke (7.5%), priapism (2.6%), serious infections (11.5%), and persistent splenomegaly (11%) beyond 5 years of age. No patient had leg ulcer. History of asthma and high steady state white blood cells count were associated with increased risk of acute chest syndrome. Coinheritance of alpha-thalassemia was associated with a lower frequency of gallstones. Higher fetal hemoglobin level was associated with persistent splenomegaly but not with other complications. Splenic sequestration was more common among males and was associated with lower steady state hemoglobin. SCD phenotype in the SW Province is variable and comparable with African Americans except for the rarity of priapism and the absence of leg ulcers. Fetal hemoglobin level was not associated with SCD vaso-occlusive complications. New genetic modifiers and environmental factors might modulate the phenotype of SCD in Saudi Arabia.