阿曼苏丹国β地中海贫血携带者的诊断
Diagnosis of Beta-thalassaemia carriers in the sultanate of oman.
作者信息
Daar Shahina, Gravell David
机构信息
Department of Haematology, Sultan Qaboos University, College of Medicine and Health Sciences, P.O.Box 35, Al-Khod, Muscat 123, Sultanate of Oman.
出版信息
Sultan Qaboos Univ Med J. 2006 Jun;6(1):27-31.
BACKGROUND
Haemoglobinopathies are a major cause of morbidity in the Sultanate of Oman and premarital screening is being encouraged in order to reduce the number of affected births. The identification of β-thalassaemia carrier status is an essential prerequisite of any screening programme. However, the level of Haemoglobin (Hb) A(2), which is used to detect β-thalassaemia carriers, can be affected by other factors including iron deficiency, concurrent α thalassaemia and the type of DNA mutation present.
OBJECTIVES
The following study was undertaken to ascertain if the Hb A(2) level is an appropriate tool for the identification of β-thalassaemia carriers in the Omani population.
METHOD
Hb A(2) was measured by high performance liquid chromatography (HPLC) in 160 obligate carriers of β-thalassaemia. 158 subjects had Hb A(2) levels above 3.5% indicating β-thalassaemia trait. Two subjects had slightly lower levels and were found to be iron deficient. After therapy both these subjects' Hb A(2) levels increased to above 3.5%.
CONCLUSION
In the absence of iron deficiency, Hb A(2) is an accurate marker for the presence of β-thalassaemia trait in the Sultanate of Oman.
背景
血红蛋白病是阿曼苏丹国发病的主要原因之一，为减少患病新生儿数量，该国鼓励婚前筛查。鉴定β地中海贫血携带者状态是任何筛查项目的基本前提。然而，用于检测β地中海贫血携带者的血红蛋白（Hb）A2水平可能受其他因素影响，包括缺铁、合并α地中海贫血以及存在的DNA突变类型。
目的
开展以下研究以确定Hb A2水平是否是鉴定阿曼人群中β地中海贫血携带者的合适工具。
方法
采用高效液相色谱法（HPLC）测定160名β地中海贫血确诊携带者的Hb A2水平。158名受试者的Hb A2水平高于3.5%，表明为β地中海贫血特征。两名受试者的水平略低，经检查发现缺铁。治疗后，这两名受试者的Hb A2水平均升至3.5%以上。
结论
在无缺铁情况时，Hb A2是阿曼苏丹国存在β地中海贫血特征的准确标志物。
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