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Abstract：
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).
摘要：
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)。
