A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

Abstract

Objective: Despite the high prevalence of hemoglobinopathies (HBP), the most common single-gene disorders in Turkey, data in some regions are lacking. We aimed to evaluate the effectiveness of the hemoglobinopathy premarital screening program (PMS) and to investigate the contribution of efficient use of complete blood count (CBC) parameters on cost-effectivity. Method: Hemoglobinopathy diagnosed 49171 subjects in 4 years and CBC of subjects with hemoglobinopathy in a year were evaluated retrospectively. Result: The total incidence rate of HBP was 3.41%, β-thalassemia trait (β-TT) was 1.98%, Hemoglobinopathy incidence in the PMS group was 2.43%, β-TT was 1.08%. Moreover, HbF, HbD, HbC, HbS, HbE and HbJ were detected with the incidences of 0.49%, 0.14%, 0.05%, 0.04%, 0.007% and 0.009%, respectively. RDW/MCH ratio compared to other indices was the most successful for both sexes in diagnostic efficiency of HBP (AUC: male:0.922 - female:0.961) and β-TT (AUC: male;0.928 - female:0.961). Conclusion: PMS was found to be an effective application program in hemoglobinopathy screening. RDW/MCH ratio was the most useful and easy parameter in detecting HBP and β-TT in PMS and in terms of reducing unnecessary test requests and cost-effectiveness in public health screenings.

Keywords

• Hemoglobinopathy
• Premarital screening
• β-thalassemia trait
• RDW
• MCH

Birinci Basamakta Evlilik Öncesi Hemoglobinopati Taramasına Farklı Bir Bakış

Abstract

Amaç: Türkiye'de en sık görülen tek gen hastalıkları olan hemoglobinopatilerin (HBP) yüksek prevalansına rağmen, bazı bölgelerde veri bulunmamaktadır. Hemoglobinopati evlilik öncesi tarama programının (PMS) etkinliğini değerlendirmeyi ve tam kan sayımı (CBC) parametrelerinin etkin kullanımının maliyet-etkililiğe katkısını araştırmayı amaçladık. Yöntem: 4 yılda 49,171 HMP tanısı konan olgu ve bir yılda HMP’si olan olguların tam kan sayımları geriye dönük olarak değerlendirildi. Sonuç: HBP'nin toplam insidans oranı %3.41, β-talasemi taşıyıcılığı (β-TT) %1.98 bulundu. PMS grubunda HMP insidansı %2.43, β-TT %1.08 idi. Ayrıca HbF, HbD, HbC, HbS, HbE ve HbJ sırasıyla %0.49, %0.14, %0.05, %0.04, %0.007 ve %0.009 oranında tespit edildi. ROC analizinde diğer indekslere kıyasla RDW/MCH oranı, HBP (erkek:0.922- kadın:0.961) ve β-TT (erkek;0.928- kadın:0.961) tanısal etkinliğinde her iki cinsiyet için de en başarılıydı. Sonuç: PMS, HBP taramasında etkili bir uygulama programı olarak bulundu. RDW/MCH oranı; HBP ve β-TT'nin saptanmasında ve halk sağlığı taramalarında gereksiz test isteklerinin azaltılması ve maliyet etkinliği açısından en kullanışlı parametreydi.

Keywords

• Evlilik öncesi tarama
• Talasemi taşıyıcılığı
• RDW
• Hemoglobinopati

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