Evaluation of Married Haemoglobinopathic Carrier Couples for Prevention of Haemoglobinopathic Births

Yıl 2013, , 394 - 399, 01.04.2013

Ersin Nazlıcan Özlem Çelenk Bayram Kerkez Hakan Demirhindi Muhsin Akbaba Mustafa Kiremitçi

https://doi.org/10.5152/balkanmedj.2013.9076

Öz

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.

Anahtar Kelimeler

Haemoglobinopathies, prenatal diagnosis, Mediterranean, Turkey, birth

Evaluation of Married Haemoglobinopathic Carrier Couples for Prevention of Haemoglobinopathic Births

Öz

Kaynakça

• Cavalli-Sforza LL, Menozzi P, Piazza A. The History and Geography of Human Genes. Princeton University Press, New Jersey, 199 Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 2001;79:704-12.
• Ferreira TDS, Freire AS, Silveira-Lacerda EDP, Garcia-Zapata MTA. A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures. Rev Bras Hematol Hemoter 2012;34:339-44. [CrossRef]
• WHO. Guidelines for the control of hemoglobin disorders. In: Model B (ed). World Health Organization Hereditary Disease Programme. Document of the VIth annual meeting of WHO working group on hemoglobinopathies, Sardinia, 1989. (WHO/HDP/HB/ GL/91); 1994. pp.1–62.
• Modell B, Kuliev A. The history of community genetics: the contribution of the haemoglobin disorders. Community Genet 1998;1:3-11. [CrossRef]
• Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008;86:480-7. [CrossRef]
• Kılınç Y. Hemoglobinopathies in Turkey. Turk J Hematol 2006;23:214-6.
• Higgs DR. Gene regulation in hematopoiesis: New lessons from thalassemia. Hematology Am Soc Hematol Educ Program 2004;1-13. [CrossRef]
• Jans SM, de Longe A, Henneman L, Cornel MC, Lagro-Janssen ALM. Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening. Eur J Hum Genet 2012;20:1112-7. [CrossRef]
• Kohne E, Kleihauer E. Hemoglobinopathies: a longitudinal study over four decades. Dtsch Arztebl Int 2010;107:65-71.
• May C, Sadelain M. A promising genetic approach to the treatment of beta-thalassemia. Trends Cardiovasc Med 2001;11:276-80. [CrossRef]
• Yuregir GT, Donma O, Dikmen N, Ispir T, Çinar M. Population studies of hemoglobin S and other variants in Çukurova, the southern part of Turkey. Nihon Ketsueki Gakkai Zasshi 1987;50:757-65.
• Canatan D, Kose MR, Ustundag M, Haznedaroglu D, Ozbas S. Hemoglobinopathy Control Program in Turkey. Community Genet 2006;9:124–6. [CrossRef]
• Gali E, Polat G, Dogdu O, Akgol M, Parlar M, Yuregir G. Premarital hemoglobinopathy screening in Kocaeli, Turkey: a crowded industrial center on the north coast of Marmara Sea. Journal of Mersin University, Faculty of Medicine 2001;3:305–10.
• Kilinc Y, Kumi M, Gurgey A, Altay C. Determination of the frequency of alfa-thalassemia, G6PD enzyme deficiency and Hb-S in cord blood samples from infants born in Adana region. DOĞA 1986;10:162-7.
• Guvenc B, Canataroglu A, Unsal C, Yildiz SM, Turhan FT, Bozdogan ST, et al. β-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study. Arch Med Sci 2012;8:411-4. [CrossRef]
• Angastiniotis M, Modell B, Englezos P, Boulyjenkov V. Prevention and control of haemoglobinopathies. WHO Bulletin OMS 1995;73:375-86.
• Bandeira FM, Santos MN, Bezerra MA, Gomes YM, Araujo AS, Braga MC, et al. Family screening for HBB*S gene and detection of new cases of sickle cell trait in Northeastern Brazil. Rev Saude Publica 2008;42:234-41. [CrossRef]
• Cao A, Pirastu M, Rosatelli C. The prenatal diagnosis of thalassaemia. Br J Haematol 1986;63:215-20. [CrossRef]
• Bozkurt G. Thalassemia prevention and control program in the Turkish Republic of Northern Cyprus. In: Bozkurt G (ed) 2nd International Thalassemia Summer School, 01–05 April 2002, Girne, KKTC, p. 41.
• Bozkurt G. Results from the North Cyprus thalassemia prevention program. Hemoglobin 2007;31:257–64. [CrossRef]
• Balseven A, Ozdemir C, Bilge Y. Problem of determination of thalassemia carriage. Sted 2002;11:378-9.
• Yücel Ö. Legal aspect of prenatal examination and tests. Adli Bilimler Dergisi 2009;8:37-47.
• Tunçbilek E, Özgüç M. Application of medical genetics in Turkey. Turk J Pediat 2007;49:353-9.
• Arcasoy A, Canatan D. Thalassemias and haemoglobinopathies in the World and Turkey. The Prevention, Diagnosis and Treatment Book of Thalassemias and Haemoglobinopathies. Turkish Republic, Ministry of Health, Department of Child and Maternal Health and Family Planning. Ankara, 2002;11-7.
• Aluoch JR, Kilinc Y, Aksoy M, Yuregir GT, Bakioglu I, Kutlar A, et al. Sickle cell anaemia among Eti-Turks: haematological, clinical and genetic observations. Br J Haematol 1986;64:45-55. [CrossRef]
• Voskaridou E, Ladis V, Kattamis A, Hassapopoulou E, Economou M, Kourakli A, et al. A national registry of haemoglobinopathies in Greece: Deducted demographics, trends in mortality and affected births. Ann Hematol 2012;91:1451-8. [CrossRef]
• Giordano PC. Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies. Clin Biochem 2009;42:1757-66. [CrossRef]
• Hacettepe University, Institute of Population Studies. Turkey Demographic and Health Survey 2008. Hacettepe University Hospitals Printing House, Ankara, 2008.
• Turkish Official Gazette-No:21804 (Print date:30/12/1993). Law of fight against hereditary blood diseases (no.3960 and dated 28/12/1993).
• Asadi-Pooya AA, Doroudchi M. Thalassemia major and consanguinity in Shiraz city, Iran. Turk J Haematol 2004;21:127-30.
• Loukopoulos D. Haemoglobinopathies in Greece: prevention programme over the past 35 years. Indian J Med Res 2011;134:572-6.
• Savas N, Turhan E, Inandi T, Kaya H. Hemoglobinopathy awareness among high school students in Antakya, Turkey. Int J Heamtol 2010;91:413-8. [CrossRef]