Reeve J, Blake L, Griffin D, O'Shea P
Department of Clinical Biochemistry, Galway University Hospitals, Newcastle Road, Galway, Ireland.
Ir J Med Sci. 2015 Jun;184(2):353-5. doi: 10.1007/s11845-014-1118-z. Epub 2014 Apr 13.
Haemoglobin (Hb) variants are genetic variations in the globin genes that code for an abnormal globin protein structure. The prevalence of Hb variants has increased in Ireland due to the number of emigrants from Africa and Southeast Asia. The rate of incidentally detected Hb variants, in laboratories employing HPLC to measure HbA1c, has increased in parallel. The presence of a Hb variant can compromise HbA1c measurement and interpretation. In such cases, HbA1c cannot be used to diagnose diabetes or to assess concordance with glycaemic targets.
To establish the number of incidentally identified Hb variants during 10 months of routine HbA1c analysis, and the percentage of HbA1c reports alerting the requesting clinician to the presence of a Hb variant.
The laboratory database was interrogated to extract all records of HbA1c requests and incidentally identified Hb variants from March to December 2012.
A total of 32,636 HbA1c analyses were performed during the evaluation period. Seventy-three Hb variants were identified in a total of 46 patients. In 32.6% (15 of 46) the haemoglobinopathy status was known prior to testing and 97% of HbA1c reports communicated the presence of the Hb variant to the requesting clinician.
Hb variants may invalidate the results of HbA1c analysis and could result in a missed diagnosis or a misdiagnosis of diabetes or mismanagement of a patient with diabetes mellitus. It is, therefore, imperative that a comment alerting the requesting clinician to the presence of the Hb variant is appended to the HbA1c result.
血红蛋白(Hb)变异是编码异常球蛋白蛋白质结构的球蛋白基因中的遗传变异。由于来自非洲和东南亚的移民数量增加,爱尔兰Hb变异的患病率有所上升。同时,在采用高效液相色谱法(HPLC)测量糖化血红蛋白(HbA1c)的实验室中,偶然检测到的Hb变异率也相应增加。Hb变异的存在可能会影响HbA1c的测量和解读。在这种情况下,HbA1c不能用于诊断糖尿病或评估与血糖目标的一致性。
确定在10个月的常规HbA1c分析过程中偶然发现的Hb变异数量,以及HbA1c报告中提醒申请医生存在Hb变异的百分比。
查询实验室数据库,提取2012年3月至12月期间所有HbA1c检测申请记录以及偶然发现的Hb变异情况。
在评估期间共进行了32,636次HbA1c分析。在总共46名患者中鉴定出73种Hb变异。其中32.6%(46例中的15例)在检测前已知血红蛋白病状态,并且97%的HbA1c报告将Hb变异的存在告知了申请医生。
Hb变异可能会使HbA1c分析结果无效,并可能导致糖尿病漏诊、误诊或糖尿病患者管理不当。因此,必须在HbA1c结果后附加一条注释,提醒申请医生存在Hb变异。