Yıl: 2013 Cilt: 24 Sayı: 1 Sayfa Aralığı: 43 - 50 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

The prevalence of primary hereditary hemochromatosis in central Anatolia

Öz:
Amaç: Kalıtsal hemokromatoz, HFE geni ile ilişkili otozomal resesif geçişli bir hastalıktır. Tedavi gecikirse geri dönüşümsüz organ hasarlarına neden olabilir, bu nedenle erken teşhis önemlidir. Bu çalışmada, Orta Anadolu olarak isimlendirilen Kayseri ve çevresinde kalıtsal hemokromatoz hastalığının prevalansının belirlenmesi amaçlandı. Gereç ve Yöntem: Bu çalışmaya Erciyes Üniversitesi Tıp Fakültesi’nde Aralık 2005-Aralık 2006 tarihleri arasında, 17 yaş üzeri 2304 katılımcı (1220 erkek, 1084 kadın) dahil edildi. Transferin saturasyonları kandan ve ardından bir gecelik açlık sonrası kan numunelerinden değerlendirildi. Serum demiri ve total demir bağlama kapasiteleri çalışıldı ve transferrin satürasyonları hesaplandı. Bir gecelik açlık sonrası transferin satürasyon değeri, erkeklerde %50 veya daha yüksek, kadınlarda %45 veya daha yüksek tespit edilen kişilerin serum ferritin düzeyleri ve kalıtsal hemokromatoz gen çalışmaları yapıldı. Bulgular: Erkeklerde homozigot C282Y mutasyonu görülme sıklığı %0.08 (1/1220), heterozigot C282Y mutasyonu görülme sıklığı %0.08 (1/1220) hesaplandı. Kadınlarda heterozigot H63D mutasyonu görülme sıklığı %0.09 (1/1084) olarak hesaplandı. Genel popülasyonda homozigot C282Y mutasyonu görülme sıklığı %0.043 (1/2304), heterozigot C282Y mutasyonu görülme sıklığı %0.043 (1/2304) ve heterozigot H63D mutasyonu görülme sıklığı %0.043 (1/2304) olarak hesaplandı. Sonuç: Kayseri ve çevresinde kalıtsal hemokromatoz hastalığının görülme sıklığı %0.043 (1/2304) tespit edildi. Bu göreceli düşük oran nedeniyle toplum tarama çalışmalarının şu an için maliyet-etkin olmadığı düşünüldü.
Anahtar Kelime:

Konular: Cerrahi

Orta Anadolu’da kalıtsal (primer) hemokromatoz prevalansı

Öz:
Background/aims: Hereditary hemochromatosis is an autosomal recessive disorder associated with the HFE genes. Early identification and diagnosis is important as end stage organ damage may occur if treatment is delayed.. This study aimed to identify the prevalence of hereditary hemochromatosis in Kayseri and surroundings known as Central Anatolia. Materials and Methods: 2304 participants (1220 males, 1084 females) who were older then the age of 17 were included in the study conducted between December 2005 and December 2006 in Kayseri, Turkey. Transferin saturation was measured from overnight fasting blood samples. Serum iron, total iron binding capacity, and transferin saturation were measured. Serum ferritin levels and hereditary hemochromatosis genetic analysis were also performed after an overnight fasting blood samples from participants whose transferin saturation results were more than 50% in man and more than 45% in women. Results: The homozygote C282Y mutation and heterozygote C282Y mutation prevalences were found as 0.08% (1/1220) and 0.08% (1/1220) in male participants, respectively. The heterozygote H63D mutation prevalence was found in 0.09% (1/1084) of female participants. Calculated prevalences in general population are as follows; The homozygote C282Y mutation prevalence is 0.043% (1/2304), the heterozygote C282Y mutation prevalence is 0.043% (1/2304) and the heterozygote H63D mutation prevalence is 0.043% (1/2304). Conclusions: The prevalence of hereditary hemochromatosis in Central Anatolia is 0.043% (1/2304). Because of the relatively low frequency, population screening studies are not cost-effective.
Anahtar Kelime:

Konular: Cerrahi
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA KARACA H, Güven K, Onal M, Gürsoy S, Başkol M, ÖZKUL Y (2013). The prevalence of primary hereditary hemochromatosis in central Anatolia. , 43 - 50.
Chicago KARACA Halit,Güven Kadri,Onal Muge Gulcihan,Gürsoy Sebnem,Başkol Mevlüt,ÖZKUL Yusuf The prevalence of primary hereditary hemochromatosis in central Anatolia. (2013): 43 - 50.
MLA KARACA Halit,Güven Kadri,Onal Muge Gulcihan,Gürsoy Sebnem,Başkol Mevlüt,ÖZKUL Yusuf The prevalence of primary hereditary hemochromatosis in central Anatolia. , 2013, ss.43 - 50.
AMA KARACA H,Güven K,Onal M,Gürsoy S,Başkol M,ÖZKUL Y The prevalence of primary hereditary hemochromatosis in central Anatolia. . 2013; 43 - 50.
Vancouver KARACA H,Güven K,Onal M,Gürsoy S,Başkol M,ÖZKUL Y The prevalence of primary hereditary hemochromatosis in central Anatolia. . 2013; 43 - 50.
IEEE KARACA H,Güven K,Onal M,Gürsoy S,Başkol M,ÖZKUL Y "The prevalence of primary hereditary hemochromatosis in central Anatolia." , ss.43 - 50, 2013.
ISNAD KARACA, Halit vd. "The prevalence of primary hereditary hemochromatosis in central Anatolia". (2013), 43-50.
APA KARACA H, Güven K, Onal M, Gürsoy S, Başkol M, ÖZKUL Y (2013). The prevalence of primary hereditary hemochromatosis in central Anatolia. Turkish Journal of Gastroenterology, 24(1), 43 - 50.
Chicago KARACA Halit,Güven Kadri,Onal Muge Gulcihan,Gürsoy Sebnem,Başkol Mevlüt,ÖZKUL Yusuf The prevalence of primary hereditary hemochromatosis in central Anatolia. Turkish Journal of Gastroenterology 24, no.1 (2013): 43 - 50.
MLA KARACA Halit,Güven Kadri,Onal Muge Gulcihan,Gürsoy Sebnem,Başkol Mevlüt,ÖZKUL Yusuf The prevalence of primary hereditary hemochromatosis in central Anatolia. Turkish Journal of Gastroenterology, vol.24, no.1, 2013, ss.43 - 50.
AMA KARACA H,Güven K,Onal M,Gürsoy S,Başkol M,ÖZKUL Y The prevalence of primary hereditary hemochromatosis in central Anatolia. Turkish Journal of Gastroenterology. 2013; 24(1): 43 - 50.
Vancouver KARACA H,Güven K,Onal M,Gürsoy S,Başkol M,ÖZKUL Y The prevalence of primary hereditary hemochromatosis in central Anatolia. Turkish Journal of Gastroenterology. 2013; 24(1): 43 - 50.
IEEE KARACA H,Güven K,Onal M,Gürsoy S,Başkol M,ÖZKUL Y "The prevalence of primary hereditary hemochromatosis in central Anatolia." Turkish Journal of Gastroenterology, 24, ss.43 - 50, 2013.
ISNAD KARACA, Halit vd. "The prevalence of primary hereditary hemochromatosis in central Anatolia". Turkish Journal of Gastroenterology 24/1 (2013), 43-50.