Screening for Hemochromatosis in Turkey

Bozkaya, Hakan; Bektaş, Mehmet; Metin, Olga; Erkan, Özlem; Ibrahimoglu, Dicle; Dalva, Klara; Akbıyık, Filiz; Gürel, Selım; Bozdayı, A. Mithat; Akay, Cemal; Yurdaydın, Cihan; Aslan, Önder; Uzunalımoǧlu, Özden

doi:10.1023/b:ddas.0000020500.26184.ce

Cited by 16 publications

(17 citation statements)

References 40 publications

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“…Although many screening studies related to hereditary hemochromatosis have been performed in different populations, there is a few population-based studies in Turkish population in the different perspectives. [8][9][10][11] The results of these studies show that C282Y and S65C mutations are very rare or absent in Turkish population. [8][9][10] However, it has been reported that the frequency of the C282Y mutation is high in people of Angloceltic origin.…”

Section: Discussionmentioning

confidence: 99%

Screening of the HFE Gene Mutations in Turkish Patients with Cryptogenic Cirrhosis and Hemochromatosis

Öztürk¹,

Dikici²,

Dinçer³

et al. 2010

Turkiye Klinikleri J Med Sci

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A AB BS S T TR RA AC CT T O Ob b j je ec c t ti i v ve e: : The aim of this study was to de ter mi ne the pre va len ce of the HFE ge ne muta ti ons (C282Y, S65C and H63D) in pa ti ents with crypto ge nic cirr ho sis, he moc hro ma to sis and healthy con trols. M Ma a t te e r ri i a al l a an nd d M Me et t h ho od ds s: : The exon 2 and exon 4 of the HFE ge ne we re amp li fi ed by poly me ra se cha in re ac ti on (PCR) in the DNA samp les of 18 crypto ge nic cirr ho tic and 11 he mochro ma to sis pa ti ents, and 141 he althy con trol in di vi du als.Then the res tric ti on frag ment length poly morp hism (RFLP) met hod was used to de tect the mu ta ti ons. R Re e s su ul lt ts s: : The fre qu en ci es of C282Y, S65C and H63D mu ta ti ons we re fo und as 0.0, 0.0, 0.12 res pec ti vely in he althy Tur kish popu la ti on and 0.0, 0.0, and 0.11 res pec ti vely in crypto ge nic cirr ho tic pa ti ents. We al so scre e ned 11 he moc hro ma to sis pa ti ents for the se mu ta ti ons, and the fre qu en ci es of the mu ta ti ons we re fo und as 0.0 for C282Y, 0.0 for S65C, and 0.27 for H63D mu ta ti on. The re was no dif fe ren ce bet we en the con trol gro up and crypto ge nic cirr ho sis gro up. Ho we ver, we fo und dif fe ren ces in the fre qu ency of the H63D mu ta ti on bet we en the con trol gro up and he moc hro ma to sis gro up. C Co on nc c l lu u s si i o on n: : The fre qu en ci es of the C282Y and S65C mu ta ti ons we re fo und as 0.0 in Tur kish po pu la ti on and in the pa ti ents with crypto ge nic cirr ho sis similar to ot her Asi an po pu la ti ons. Ho we ver, the fre qu ency of the H63D mu ta ti on was hig her than pre vi o usly re por ted in Asi an po pu la ti ons. The se re sults suggest that the H63D mu ta ti on may be res pon sib le for the he re di tary he moc hro ma to sis in Tur kish po pu la ti on. K Ke ey y W Wo or rd ds s: : Li ver cirr ho sis; he moc hro ma to sis; DNA mu ta ti o nal analy sis; poly me ra se cha in re ac ti on; res tric ti on map ping Ö ÖZ ZE ET T A Am ma aç ç: : Bu ça lış ma nın ama cı, krip to je nik si roz lu, he mok ro ma to zis li has ta lar da ve sağ lık lı kontrol bi rey ler de HFE gen mu tas yon la rı (C282Y, S65C ve H63D) sık lı ğı nın be lir len me siy di. G Ge e r re eç ç v ve e Y Yö ön n t te em m l le er r: : On sekiz krip to je nik si roz lu ve 11 he mok ro ma to zis li has ta ile 141 sağ lık lı kon trol bi reyin DNA ör nek le rin de HFE ge ni nin ek zon 2 ve ek zon 4 po li me raz zin cir re ak si yo nu (PCR) ile ço -ğal tıl dı.Son ra, mu tas yon la rı sap ta mak için res trik si yon frag man tı uzun luk po li mor fiz mi (RFLP) yön te mi kul la nıl dı. B Bu ul l g gu u l la ar r: : C282Y, S65C ve H63D mu tas yon la rı nın sık lı ğı sağ lık lı Türk po pü lasyon da sı ra sıy la 0.0, 0.0, 0.12 ve krip to je nik si roz lu has ta lar da sı ra sıy la 0.0, 0.0, 0,11 ola rak bu lundu. Ay rı ca, 11 he mok ro ma to zis li has ta yı bu mu tas yon lar açı sın dan ta ra dık ve mu tas yon sık lık la rı C282Y için 0.0; S65C için 0,0; ve H63D mu tas yo nu için 0,27 ola rak bu ...

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Section: Discussionmentioning

confidence: 99%

Screening of the HFE Gene Mutations in Turkish Patients with Cryptogenic Cirrhosis and Hemochromatosis

Öztürk¹,

Dikici²,

Dinçer³

et al. 2010

Turkiye Klinikleri J Med Sci

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“…Türkiyede HFE gen mutasyonu çalışmaları çok azdır. Yapılan birkaç çalışmada H63D mutasyonuna rastlanmış, fakat C282Y bulunmamıştır [6,7,8]. C282Y taşıyan ilk aile 2007 de Yönal ve arkadaşları tarafından rapor edilmiştir [5].…”

Section: Tartışma Ve Sonuçunclassified

“…Yönal ve arkadaşları 2007 de Karadeniz bölgesinde yaşayan bir ailede bu mutasyonu rapor etmişlerdir [5,6,7]. Bu mutasyonun görülme sebebini; tarihte Celt'lerin Türkiye'nin kuzey bölgelerine göç edip yerleşmelerine bağlamışlar-dır [8]. …”

Section: Introductionunclassified

Presentation of A Case with C282Y Mutation Detected in HFE Gene and Research of HFE Gene Mutation Frequency in Patient's Family

Aydinol¹,

Yilmaz²,

Genc³

et al. 2014

Turk J Bioch

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Introduction: In this study we present a 55-year-old male patient (index case) who came to Dicle University and detected to have a homozygous C282Y mutation. His family and close relatives were also evaluated for the same reason as it is a rare mutation. Patient and Method: We have evaluated ALT, AST, Fe, TIBC, ferritin, %TS parameters of the patient, his family, and the close relatives. Hemochromatosis mutations in HFE gene detected with Real-Time-PCR. Result: 34 relatives of the patient were evaluated upon detection of homozygous C282Y mutation in index case. Ferritin level was 7134 ng/mL in index patient. Hepatomegaly and excess iron in liver was detected. It was learned that patient was discharged from internal diseases department by phlebotomy recommendation. In 17 relatives of the patient heterozygous C282Y mutation, in four of them heterozygous H63D mutation was detected. In two cases homozygouse C282Y mutation was detected. Conclusion: HFE gene mutation survey causing hereditary hemochromatosis is very rare in Turkey. For the first time, HFE gene mutations were encountered in a family living in Black Sea region and rare C282Y mutation was detected. In this study a second extended family focus with frequent HFE gene mutation was discovered in a village with high frequency of endogamy in Diyarbakır region. Necessary attempts were made especially for close surveillance of the two patients carrying C282Y homozygous gene mutation. We concluded that biochemical and genetic surveys and genetic consulting are important for public health.

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“…It was also observed that patients with mutations had significantly elevated levels both of serum iron and transferrin saturation. Epidemiological studies from Turkey on HH have been summarized in Table 1 (8)(9)(10)(11)(12).…”

mentioning

confidence: 99%

“…Type 3 HH, which was first identified in 2000, has been attributed to a mutation in the TFR2 gene. The product of this gene, the transferrin receptor 2 protein, which is expressed exclusi- (8)(9)(10)12,13 ) vely in the liver is believed to be a sensor of iron levels and is also involved in hepcidin synthesis. Inheritance of both TFR2 and HFE mutations are known to lead to an earlier onset of iron overload.…”

mentioning

confidence: 99%