Roth Idit Lachover, Lachover Boaz, Koren Guy, Levin Carina, Zalman Luci, Koren Ariel
Allergy and Clinical Immunology Unit, Meir Medical Center, Kfar Saba, Israel.
Pediatric Hematology Unit, Emek Medical Center, Afula, Israel.
Mediterr J Hematol Infect Dis. 2018 Jan 1;10(1):e2018008. doi: 10.4084/MJHID.2018.008. eCollection 2018.
β-thalassemia major is a severe disease with high morbidity. The world prevalence of carriers is around 1.5-7%. The present study aimed to find a reliable formula for detecting β-thalassemia carriers using an extensive database of more than 22,000 samples obtained from a homogeneous population of childbearing age women with 3161 (13.6%) of β-thalassemia carriers and to check previously published formulas.
We applied a mathematical method based on the support vector machine (SVM) algorithm in the search for a reliable formula that can differentiate between thalassemia carriers and non-carriers, including normal counts or counts suspected to belong to iron-deficient women.
Shine's formula and our SVM formula showed >98% sensitivity and >99.77% negative predictive value (NPV). All other published formulas gave inferior results.
We found a reliable formula that can be incorporated into any automatic blood counter to alert health providers to the possibility of a woman being a β-thalassemia carrier. A further simple hemoglobin characterization by HPLC analysis should be performed to confirm the diagnosis, and subsequent family studies should be carried out. Our SVM formula is currently limited to women of fertility age until further analysis in other groups can be performed.
重型β地中海贫血是一种发病率很高的严重疾病。全球携带者患病率约为1.5 - 7%。本研究旨在利用一个超过22000份样本的广泛数据库，找到一种可靠的检测β地中海贫血携带者的公式，这些样本来自育龄期女性的同质人群，其中有3161名（13.6%）β地中海贫血携带者，并检验此前发表的公式。
我们应用基于支持向量机（SVM）算法的数学方法，寻找一种能够区分地中海贫血携带者和非携带者的可靠公式，包括正常计数或疑似缺铁女性的计数。
Shine公式和我们的SVM公式显示出>98%的灵敏度和>99.77%的阴性预测值（NPV）。所有其他已发表的公式结果均较差。
我们找到了一种可靠的公式，可纳入任何自动血液计数器中，以提醒医疗服务提供者某女性可能是β地中海贫血携带者。应通过高效液相色谱分析进行进一步简单的血红蛋白特征分析以确诊，随后应开展家系研究。在对其他群体进行进一步分析之前，我们的SVM公式目前仅限于育龄期女性。
