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沙特阿拉伯因贫血诊断而送检的成年患者中血红蛋白病的患病率。

Prevalence of hemoglobinopathy disorders in adult patients sent for diagnosis of anemia in saudi arabia.

作者信息

Alsaeed Abbas H

机构信息

Department of Clinical Laboratory Sciences, King Saud University, Riyadh, Saudi Arabia.

出版信息

Genet Test Mol Biomarkers. 2012 Jan;16(1):25-9. doi: 10.1089/gtmb.2011.0087. Epub 2011 Aug 23.

Abstract

BACKGROUND

Hemoglobinopathies are a very heterogeneous group of congenital hemolytic anemia.

AIM OF THE STUDY

Was to detect the prevalence of hemoglobinopathy disorders in adult patients sent for diagnosis of anemia by high-performance liquid chromatography techniques in Saudi Arabia.

SUBJECTS

A total of 329 blood samples from suspected cases with an average age of 39±6.49 of both sexes (140 men and 189 women) were included in the study.

MAIN OUTCOME MEASURE

A total of 118 (35.9%) patients were found to have a normal pattern of hemoglobin (Hb)-electrophoresis with a mean level of HbA (α(2)β(2)) (97.0%±0.40%), HbA2 (α(2)δ(2)) (2.72%±0.55%), and HbF (α(2)γ(2)) (0.59%±0.25%). One hundred twenty (36.5%) subjects were normal with iron deficiency masking the thalassemic trait (Hb: 8.71±1.7 g/dL, iron level: 3.62±2.7 μg/dL, total iron-binding capacity: 86.9±21.5 μg/dL).

RESULTS

The remaining 91 (27.66%) patients showed different abnormal hemoglobin variants; 5 (1.5%) subjects had persistence of fetal HbF (7.12%±11.1%). Thirty-three (10.0%) subjects had β-thalassemia with a high level of HbA2 (>5.54%). Eleven (3.3%) had β-thalassemic/sickle cell disease. Twenty-nine (8.8%) had sickle cell trait with a level of HbS α(2)β(S)(2)<45%, and thirteen (4.0%) had sickle cell disease with a high level of HbS ≥45%.

CONCLUSION

β-thalassemia and sickle cell anemia are the most common monogenic disorders in Saudi Arabia. This is a serious health threat to our nation, if it is allowed to continue without taking preventive measures.

摘要

背景

血红蛋白病是一组非常异质性的先天性溶血性贫血。

研究目的

通过高效液相色谱技术检测沙特阿拉伯因贫血诊断而送检的成年患者中血红蛋白病的患病率。

研究对象

本研究共纳入329份疑似病例的血样,男女平均年龄为39±6.49岁(男性140例,女性189例)。

主要观察指标

共发现118例(35.9%)患者血红蛋白(Hb)电泳模式正常,HbA(α₂β₂)平均水平为(97.0%±0.40%),HbA2(α₂δ₂)为(2.72%±0.55%),HbF(α₂γ₂)为(0.59%±0.25%)。120例(36.5%)受试者正常,但缺铁掩盖了地中海贫血特征(Hb:8.71±1.7g/dL,铁水平:3.62±2.7μg/dL,总铁结合力:86.9±21.5μg/dL)。

结果

其余91例(27.66%)患者表现出不同的异常血红蛋白变异;5例(1.5%)受试者胎儿HbF持续存在(7.12%±11.1%)。33例(10.0%)受试者患有β地中海贫血,HbA2水平较高(>5.54%)。11例(3.3%)患有β地中海贫血/镰状细胞病。29例(8.8%)患有镰状细胞特征,HbSα₂β(S)₂水平<45%,13例(4.0%)患有镰状细胞病,HbS水平较高≥45%。

结论

β地中海贫血和镰状细胞贫血是沙特阿拉伯最常见的单基因疾病。如果不采取预防措施任由其发展,这将对我国构成严重的健康威胁。

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