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 sociodemographic 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.

International Comparison of Thalassemia Registries: Challenges and Opportunities

“…This disorder encompasses the lack of or errors in genes accountable for the construction of hemoglobin, a protein present in the red blood cells (2). The World Health Organization (WHO) announced that the frequency of thalassemia and abnormal hemoglobin carriers is 5.1% with nearly 226 million carriers worldwide (2, 3). Nearly 80% of thalassemia cases worldwide are detected in the area extending from sub-Saharan Africa to the Mediterranean Basin, the Middle East, and South and Southeast Asia (4).…”

Haemoglobinopathy Awareness among Young Students in Turkey: Outcomes of a City-Wide Survey

“…No sooner was “Congenital Blood Diseases Research and Treatment Centers” founded by Turkish Ministry of Health in the provinces of Hatay, Mersin, Muğla and Antalya, than the screening test for thalassemia was announced obligatory for couples intending to marry. In addition, the “National Haemoglobinopathy Council” was founded with the aims of screening, recording, instruction, antenatal detection and conventional screening [ 10 ]. Later, in 2005, the Thalassemia Federation has been founded from the previous National Haemoglobinopathy Council, with the same objectives.…”