Balkan Journal of Medical Genetics

THE GENETIC BACKGROUND OF SOUTHERN IRANIAN COUPLES BEFORE MARRIAGE
Nariman A, Sobhan MR, Savaei M, Aref-Eshghi E, Nourinejad R, Manoochehri M, Ghahremani S, Daliri F, Daliri K,*
*Corresponding Author: Dr. Karim Daliri, Department of Human Genetics, Behbahan Faculty of Medical Sciences, Bashir Boulevard, Behbahan, Iran. Tel: +98-9374140937. Fax: +98-9374140937. E-mail: karimdaliri@ gmail.com
page: 71

INTRODUCTION

The National Society of Genetic Counselors (NSGC) has introduced and approved the following definition of genetic counseling: “the procedure of helping people to comprehend the medical and familial implications of genetic contributions to the disease.” This procedure combines: 1) the interpretation of medical histories to evaluate the chance of the disease occurrence, and 2) counseling to improve choices and adaptation to the current risk [1]. About one billion people in the world live in communities that accept consanguineous marriage [2]. In Middle East and Southern Indian populations, consanguineous marriages are socially respectable and about one-third of all marriages are between first cousins [3]. Moreover, Saadat et al. [4], reported a 38.6% rate of consanguineous marriages in Iranian couples. The rate is reported to be much higher (up to 73.0%) in the parents of individuals with rare genetic disorders [5]. Consanguineous marriage is defined as a relationship between two individuals as second cousins or closer. Parents who are first cousins have an extra risk for having a child with an autosomal recessive disease. Moreover, the risk of fetal loss due to lethal autosomal recessive disorders is higher in consanguineous marriages than in the general population [6]. Therefore, reproductive health can be threatened by some lethal autosomal recessive disorders in consanguineous marriages [7]. Over 6000 heritable genetic disorders exist, many of them, such as β-thalassemia (β-thal), are fatal or debilitating. The genetic consultation can include taking a family history, medical examination, and essential medical tests. For couples with a family history of certain genetic disorders, specific genetic tests are recommended. Due to the high frequency of β-thal in the Iranian population, it is mandatory for all couples who plan to marry to undergo a screening test for detection of β-thal carrier status. Carriers who are identified by screening are referred for genetic consultation [7]. To provide effective and helpful genetic counseling services, clinical professionals need sufficient knowledge about the profile of the referred individuals [8]. Furthermore, the recent development of highly demanding genetic techniques such as whole genome sequencing (WGS), whole exome sequencing (WES) and comparative genomic array (aCGH), have created new areas of genetic counseling. Therefore, it is important to have clear guidelines for the interpretation of the results of these tests for highly consanguineous communities [9]. The primary purpose of this study was to obtain information on the genetic history and genetic services offered to couples who intend to marry in Behbahan City, Iran.

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