Premarital Screening of Hemoglobinopathies: A Pilot Study in Turkey

Altay, Çiğdem; Yilgör, E; Beksaç, Sinan; Gürgey, Aytemiz

doi:10.1159/000154336

Cited by 21 publications

(16 citation statements)

References 4 publications

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“…The Mediterranean region of Turkey established effective premarital screening and prenatal diagnosis programs that have been in use since 1994. 13,[18][19][20] However, the high annual rate of births, frequent occurrence of consanguineous marriage, low rate of prenatal diagnosis of newborns, and insufficient education and informative studies seems to contribute significantly to the frequency of affected births in Turkey. In Iran, which neighbors Turkey, the number of newly diagnosed cases decreased considerably after the start of their prevention program.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Beta-thalassemia and Sickle Cell Anemia Trait in Premarital Screening in Konya Urban Area, Turkey

Güler

Çalışkan²,

UcarAlbayrak³

et al. 2007

Journal of Pediatric Hematology/Oncology

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Thalassemias and sickle cell anemia (SCA) are common disease in Turkey. To determine the prevalence of beta-thalassemia and SCA traits in Konya urban area of Turkey, all couples applied for marriage procedures were screened. Screening tests included complete blood count and quantitation of hemoglobin for both partners. The subjects were considered to have the beta-thalassemia trait if they had a mean corpuscular volume of less than 80 fL and/or a mean corpuscular hemoglobin level of less than 27 pg and a hemoglobin A2 level of more than 3.2% or a hemoglobin F level of more than 2%. Subjects were considered to have an SCA trait if they were positive for sickle hemoglobin. During the study, premarital screening of hemoglobinopathies was evaluated retrospectively in 72,918 subjects; the thalassemia trait was detected in 1465 subjects (2%), and the SCA trait was detected in 37 subjects (0.05%). Of the carriers of the beta-thalassemia trait, 820 (56%) people had high hemoglobin A2, 513 (35%) people had high hemoglobin F, and 132 (9%) people had both high hemoglobin F and hemoglobin A2. Our results are very similar to Turkey's beta-thalassemia and SCA trait averages.

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Section: Discussionmentioning

confidence: 99%

Prevalence of Beta-thalassemia and Sickle Cell Anemia Trait in Premarital Screening in Konya Urban Area, Turkey

Güler

Çalışkan²,

UcarAlbayrak³

et al. 2007

Journal of Pediatric Hematology/Oncology

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“… M. S. Beksac et al been drastically reduced as a result [4][5][6][7][8][9][10][11]. In our center, we established a unit for prenatal diagnosis in 1983.…”

mentioning

confidence: 99%

Prenatal Diagnosis of Hemoglobinopathies in Hacettepe University, Turkey

Beksac

Gümrük

Gürgey

et al. 2010

Pediatric Hematology and Oncology

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Between 1983 and 2008, prenatal diagnostic procedures for identifying hemoglobinopathies were performed in 947 at-risk fetuses. Seventy-six percent of the fetuses were at risk for β-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of β-thalassemia and an abnormal hemoglobin of the β chain. The results of the study showed that β gene mutations in hemoglobinopathies have a very broad spectrum. Seven hundred and thirty of the 947 fetuses examined using the DNA technique showed 88 different combinations of 27 different mutations. Although the number of fetuses evaluated was far below the desired target, the termination of 261 affected fetuses provided both psychological and economic relief for the parents and was economically beneficial for the country in the long term.

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“…We appreciated Dr. Henn's comments about the recently pub lished premarital screening study [1]. We would like to emphasize once more that the study was con ducted in a region where hemoglo binopathies constitute a major health problem.…”

mentioning

confidence: 94%

“…No decision was imposed on the couples and only one fourth of them agreed to participate [1], As correctly pointed out by Dr. Henn, 'even two carriers of a recessive disease have a realistic chance of becoming blessed with healthy children', but it may also happen otherwise. One of the major aims of this study was to make sure by offering prenatal diagnosis that such couples have healthy offspring.…”

mentioning

confidence: 99%