Evaluation of Married Haemoglobinopathic Carrier Couples for Prevention of Haemoglobinopathic Births

Abstract

Background: Abnormal haemoglobins (Hb) and thalassaemias are some of the most frequently observed hereditary disorders in the world, but especially in the Mediterranean region where Turkey is located. Hatay province is one of the largest provinces in the region, suggested as a target area to be selected for preventive programs after studies by three Turkish universities, i.e. Çukurova, Akdeniz and Hacettepe Universities in Turkey. Aims: The aim of this study was to determine demographic and family characteristics of all haemoglobinopathy carrier married couples registered in the Hatay Provincial Health Directorate registry and to educate the target population about pregnancy, births, prenatal diagnosis and genetic counselling with the particularly emphasised scope of eliminating all haemoglobinopathic births. Study design: Descriptive cross-sectional and intervention study. Methods: 1065 couples both being haemoglobinopathic carriers, registered in the Hatay Provincial Health Directorate registry were investigated for socio-demographic characteristics, obstetrical status and especially for a present pregnancy, the presence of any haemoglobinopathic patients or carrier children in the family. Results: Among women with a history of pregnancy, 47.3% reported that they had never had any prenatal testing, while 33.1% had got received testing in each of their pregnancies. The most frequent reason for not having the test was declared as unawareness of the test (66.0%), followed by economic insufficiencies (17.1%), destiny/religious reasons (9.1%) and family interference (7.8%). After a series of descriptive analyses, the results of the final binary logistic regression model constructed to find out the risk factors significantly affecting the presence of a sick child in the family were grouped as risk increasing factors like age (95%CI between 1.002 and 1.122), marriage before 1994 (95%CI=1.081-4.161), and risk decreasing factors like family willingness for screening (95%CI=0.167-0.854), rate of prenatal testing (95%CI=0.147-0.414), age at first pregnancy (95%CI=0.469-0.882); while the frequency of births was found to have no significant effect (p>0.05). Conclusion: Besides all legal regulations and applications, time is still needed for real success against such a diffuse and congenitally transferred disease. The education of the target populations appears to be crucial. Official applications should be forced based upon present or future laws. Turkish Başlık:Hemoglobinopatili Çocuk Doğumlarının Engellenmesi için Evli Hemoglobinopati Taşıyıcı Çiftlerin İncelenmesi Anahtar kelimeler:Hemoglobinopatiler, prenatal tanı, Akdeniz, Türkiye, doğum Arkaplan: Anormal hemoglobinler (Hb) ve talasemiler dünyada, ancak özellikle Türkiye'nin de yer aldığı Akdeniz bölgesinde en sık görülen herediter hastalıklardır. Çukurova, Akdeniz ve Hacettepe Üniversiteleri; bu bölgeyi koruyucu programların uygulanması için hedef göstermişlerdir. Hatay ili bölgedeki en büyük yerleşim yerlerinden biridir. Amaç: Bu çalışmanın amacı; Hatay ilinde hemoglobinopatili çocuk doğumunu engelleyebilmek için, Hatay İl Sağlık Müdürlüğü'nde kayıtlı hemoglobinopati taşıyıcısı evli çiftlerin demografik ve ailesel özelliklerini belirlemek, ve hedef nüfusugebelik, doğum, prenatal tanı konusunda eğitmek ve genetik danışmanlık yapmaktır. Çalışma Tasarımı: Kesitsel tanımlayıcı ve müdahale çalışması Yöntemler: Hatay İl Sağlık Müdürlüğü verilerine göre her ikisi de hemoglobinopati taşıyıcısı olan 1065 çift sosyodemografik özellikler, gebelik(özellike halen devam eden), ve ailede hemoglobinopati hastası veya taşıyıcısı çocuk sahibi olma durumuna göre incelenmiştir. Bulgular: Hamilelik hikayesi olan kadınlardan %47.3%'ü bugüne kadar hiç prenatal test yaptırmadığını, %33.1'i ise bu testi her gebeliğinde yaptırdığını belirtti. Test yaptırmama nedeni olarak en başta bu konuda bilgi sahibi olmamak (66.0%) öne sürülürken bunu ekonomik yetersizlikler (%17.1), dini nedenler/kader (%9.1%) ve aile etkisi (%7.8%) izledi. Pek çok tanımlayıcı analizin ardından en son olarak yapılan ikili lojistik regresyon modelinin sonuçlarına göre; ailede hasta çocuk olma riskini arttıran faktörler: yaş (%95 Güven Aralığı (GA) 1.002 ve 1.122 arasında), 1994 yılından önce evlenmiş olma (%95 GA=1.081-4.161) iken, ailede hasta çocuk olma riskini azaltan faktörler ise: ailenin diğer aile bireylerinde tarama yaptırma konusunda istekliliği (%95 GA=0.167-0.854), prenatal test yaptırma durumu (%95 GA=0.147-0.414) ve ilk gebelik yaşı (%95 GA=0.469-0.882) idi. Doğum sıklığının ise anlamlı bir etkisi olmadığı bulundu (p>0.05). Sonuç: Tüm yasal düzenlemeler ve uygulamalara rağmen bu denli yaygın ve konjenital geçişli bir hastalığa karşı gerçek bir başarı sağlamak için hala zamana ihtiyaç vardır. Hedef nüfusun eğitimi en can alıcı noktadır. Mevcut ya da gelecekte çıkacak yasalara dayanarak resmi uygulamalar yapılmalıdır.

Keywords

• Haemoglobinopathies, prenatal diagnosis, Mediterranean, Turkey, birth

Evaluation of Married Haemoglobinopathic Carrier Couples for Prevention of Haemoglobinopathic Births

Öz

Kaynakça

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