Hemoglobin S (HbS)

  • 文章类型: Journal Article
    背景:血红蛋白病是地中海地区常见的遗传性血液疾病。主要的结构血红蛋白变体是血红蛋白S和血红蛋白C,由于其普遍性。我们进行了这项回顾性研究,以调查和表征前往国家地中海贫血和遗传咨询中心的血红蛋白C患者以及大马士革血红蛋白C疾病的管理。材料和方法:该研究包括2000年至2022年间前往大马士革国家地中海贫血和遗传咨询中心进行血红蛋白C检测的患者。性别,年龄,地理起源,血红蛋白电泳图谱,和输血被认为是血红蛋白C患者分类。连续5年输血,并与血红蛋白S和C值进行线性回归。结果:624例3至46岁(平均±SD:17.3±9.7岁)患者中有30例(男14例,女16例)出现血红蛋白C疾病。只有八名患者(一名男性和七名女性)接受了输血,其余患者(13名男性和9名女性)没有接受任何输血。仅检测到1例血红蛋白C为100%的患者;19例显示HbSC,10人患有HbAC。血红蛋白S与地理来源之间存在显着相关性(P值=0)。结论:1例纯合子血红蛋白C患者有轻度溶血性贫血,而在我们的研究中,血红蛋白C100%患者只有一次输血(他17岁)。血红蛋白C和S的遗传性组合不如单独的血红蛋白S严重。血红蛋白S与地理起源之间存在显著关系(p值=0)。
    Background: Hemoglobinopathies are common inherited blood disorders in our Mediterranean area. The main structural hemoglobin variants are hemoglobin S and hemoglobin C, due to their prevalence. We conducted this retrospective study to investigate and characterize hemoglobin C patients referred to the National Center for Thalassemia and Genetic Counseling and the management of hemoglobin C disease in Damascus. Materials and Methods: The study included patients referred to the National Center for Thalassemia and Genetic Counseling in Damascus between 2000 and 2022 for hemoglobin C detection. Gender, age, geographical origin, hemoglobin electrophoresis profile, and blood transfusion were considered for hemoglobin C patient classification. Blood transfusion in five consecutive years and linear regression with hemoglobin S and C values were determined. Results: 30 (14 males and 16 females) out of 624 patients between 3 and 46 years old (mean ± SD: 17.3 ± 9.7 years) showed hemoglobin C disease. Only eight patients (one male and seven females) received blood transfusions, and the remaining patients (13 males and 9 females) did not receive any transfusion. Only one patient with 100% hemoglobin C was detected; 19 showed HbSC, and 10 had HbAC. There was a significant correlation between hemoglobin S and geographical origin (P-value=0). Conclusion: A Homozygote hemoglobin C patient has mild hemolytic anemia, whereas the hemoglobin C 100% patient has only a one-time blood transfusion (he was 17 years old) in our study. The inherited combination of hemoglobin C and S is less severe than hemoglobin S alone. There is a significant relationship between hemoglobin S and geographical origin (p-value=0).
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  • 文章类型: Journal Article
    镰状细胞病(SCD)在美国影响近100,000人,并且镰状基因存在于大约8%的美国黑人中。在非洲人中,镰状细胞性状(杂合性)的患病率高达30%。虽然SCD发生在不同的种族和族裔群体中,它在非洲人或非裔美国人后裔中更为普遍。这种遗传性血液疾病在受影响的儿童和成人中引起不同的症状和并发症,早期诊断和治疗对于帮助降低死亡率至关重要。因为没有治愈SCD的方法,管理对生存至关重要。因此,有不同的方法来帮助那些患有SCD的人;因此,本文介绍了目前在这种疾病的管理和维护中实施的方法。
    Sickle cell disease (SCD) affects nearly 100,000 people in the United States of America and the sickle gene is present in approximately 8% of black Americans. Among Africans, the prevalence of sickle cell trait (heterozygosity) is as high as 30%. While SCD occurs among varying racial and ethnic groups, it is more commonly prevalent in individuals of African or African-American descent. This inherited blood disorder causes varying symptoms and complications among affected children and adults and early diagnosis and treatment are essential to help reduce mortality rates. Because there is no cure for SCD, management is vital to survival. Hence, there are different approaches in use to aid those living with SCD; thus, this paper provides insight into the current methods that are implemented in the management and maintenance of this disease.
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