Middle East Journal of Medical Genetics:
Consanguinity and genetic disorders in Egypt
Temtamy, Samia; Aglan, Mona
Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
Correspondence to Samia Temtamy, Human Genetics and Genome Research Division, National Research Centre, El-Buhouth St. Dokki, Cairo 12111, Egypt Tel: +2 01223410603; fax: +202 33370931; e-mail: email@example.com
Received March 15, 2011
Accepted March 30, 2011
Background: Consanguineous marriages are defined as marriages between blood relatives; however, geneticists usually use this term to refer to unions between second cousins or closer. Consanguinity increases the risk of congenital anomalies and autosomal recessive diseases; the closer the relationship, the higher the risk. Throughout history, consanguineous marriages were quite common. In Egypt, consanguinity has been known since the time of the Pharaohs.
Purpose: The aim of this study is to give an overall view of the current situation regarding consanguinity in the Egyptian population and its relevance to genetic disorders including personal experience at the Human Genetics and Genome Research Division at the National Research Centre.
Results: Studies of parental consanguinity in the general population in Egypt throughout the last 40 years showed an average consanguinity rate above 30%. Parental consanguinity rates in groups of Egyptian patients with various birth defects are significantly higher than that of the general population according to the most recent estimate (33%). In addition, parental consanguinity rates in Egyptian patients with specific malformations and genetic diseases affecting various systems and organs are statistically higher than that in the general Egyptian population in autosomal recessive and polygenic disorders. In contrast, a statistical analysis revealed no significant increase in parental consanguinity rates in autosomal dominant, X-linked, or chromosomal disorders. From our first-hand experience at the Human Genetics Clinic and the Limb Malformations and Skeletal Dysplasia Clinic at the National Research Centre in Egypt, we report several interesting findings regarding the association of consanguinity and genetic disorders.
Conclusions: The study indicates that the consanguinity rate in the Egyptian population remains high. The relative abundance of recessive disorders is clearly associated with the practice of consanguinity. A shift in public, political, and professional attitudes is needed to establish comprehensive genetic services, and a nation-wide program, which includes strategies that can dilute the cultural taboos linked with these social practices, is needed. In addition, understanding the financial and cultural constraints that impede the development and implementation of preventive genetic programs in Egypt is key in addressing the problem.
Consanguinity in the Egyptian population
Consanguinity has been a long-standing social habit among Egyptians. Studies report that consanguinity rates among the Egyptians throughout the last 40 years ranges between 29 and 39% (Temtamy and Loutfy, 1970; Hafez et al., 1983; Abdel Salam et al., 1985; Temtamy et al., 1994, 1998; Khayat and Saxena, 2000; El-Nekhely et al., 2008). Differences are due to sample sizes and methodologies. By performing analysis of variance using the Statistical Package for Social Sciences, version 13.0 (SPSS Inc., Chicago, Illinois, USA), Aglan (2010) reported no statistically significant differences in the consanguinity rates reported by Temtamy and Loutfy (1970), Temtamy et al. (1998), and El-Nekhely et al. (2008), indicating no trend in the reduction of their rates.
According to Khayat and Saxena (2000), consanguinity rates were higher in rural areas (46.0%) compared with urban areas (27.3%) and in upper Egypt (46.5%) compared with lower Egypt (31%), with the number of first-cousin marriages always higher than remote consanguinity (22.2 and 16.7%, respectively) (Fig. 1).
Association of consanguinity with congenital disorders
Consanguineous marriages (up to second cousins) are known to increase the risk of congenital malformations and autosomal recessive (AR) disorders. According to Temtamy et al. (1991d) in a study of 916 children with various birth defects, a significant association of consanguinity with birth defects was found, suggesting that the majority of birth defects arise as a consequence of homozygosity for recessive genes. The frequencies of consanguineous marriages with birth defects among their studied sample from various governorates of Egypt showed a higher percentage in upper Egypt compared with lower Egypt, with 41.3% being first cousins and 12.6% being second-cousin marriages. A highly significant association with consanguinity was present in central nervous system disorders, limb and skeletal malformations, disorders of sexual differentiation, eye, ear, and oral anomalies, and genetic syndromes.
From our experience at the Human Genetics and Genome Research Division at the National Research Centre (NRC), we have reported the following:
Afifi et al. (2010) studied 731 cases with genetic disorders diagnosed at two governmental hospitals, two primary healthcare centers, and the neonatal intensive care units at these hospitals in addition to 2686 cases referred to the Human Genetics Clinic, NRC, during a 3-year period. The authors noted an overall consanguinity rate of 55.9%, with a positive family history of similarly affected family member in 27.7%. According to their genetic/diagnostic/referral classification and the parental consanguinity rate reported in each category, Aglan (2010) reported that the consanguinity rates in patients with congenital deafness, inborn errors of metabolism, congenital dermatologic disorders, neurologic disorders, genetic ophthalmologic disorders, hematologic disorders, genetic syndromes, mental retardation, growth disorders, endocrinology disorders, and skeletal disorders were significantly higher (P<0.001) than that of the general population using the most recent record of 33% derived from National Health Surveys and reported by El-Nekhely et al. (2008). Consanguinity rates in cardiovascular and renal disorders were higher than that of the general population but not statistically significant (45 and 43.7%, respectively). However, there were no differences in the consanguinity rates in patients with primary infertility and chromosomal disorders (30 and 29.5%, respectively) and that of the general population (Fig. 2).
From the experience of the authors of this article at the Limb Malformations and Skeletal Dysplasia Clinic, NRC, out of 1700 examined cases, 50.6% were the offspring of first-cousin parents, 8% were the offspring of second cousins, and 1.5% were the offspring of double first cousins. Consanguinity beyond second cousins was present in 5.3%. Limb malformations as a part of syndrome constituted 59.7% of diagnosed cases, followed by the skeletal dysplasia group at 24.3%. The consanguinity rates in both groups (73.1 and 73.3%, respectively) were significantly higher than that of the general population. However, consanguinity rates in the group of limb and skeletal malformations due to chromosomal aberrations and that of isolated limb malformations (36.4 and 33.3%, respectively) were not different from the consanguinity of the general population (Fig. 3). A strong positive correlation between the consanguinity rates and number of referrals was confirmed by a regression analysis (r=0.801, r2=0.642) (Fig. 4).
Among the referred cases, AR disorders represented 53% of diagnosed cases with a consanguinity rate of 89.9%, which is highly significant compared with the consanguinity of the general population. This is in contrast to autosomal dominant, X-linked, sporadic, and chromosomal disorders (Fig. 5).
Because of the high rate of consanguinity in the referred cases to the Limb Malformations and Skeletal Dysplasia Clinic, rare and new AR disorders were reported and new causative genes were identified (Meguid and Aglan, 2002; Ashour et al., 2003; Temtamy et al., 2003, 2004a, 2004b, 2006a, 2006b, 2006c, 2006d, 2007a, 2007b, 2007c, 2008, 2010; Zaki et al., 2004; Temtamy and Aglan, 2008; Aglan et al., 2009; Hanson et al., 2009; Valencia et al., 2009; Lapunzina et al., 2010; Li et al., 2010). The rare phenomenon of multiple genetic disorders in the same sibship or individual has been observed and reported in nine families with a parental consanguinity of 77.8% (Temtamy et al., 2004c).
By reviewing the available Egyptian literature reporting parental consanguinity rates in groups of Egyptian patients with various birth defects, Temtamy (2004) and Aglan (2010) reported a statistically significant difference between the consanguinity rates in these studies and that of the general population (Table 1).
Also, in Egyptian studies including groups of patients with different genetic disorders, Temtamy (2004) and Aglan (2010) found a highly statistically significant difference between the consanguinity rate in patients with Gaucher disease (Khalifa et al., 1999), mucopolysaccharidosis (El-Bassyouni et al., 1999), cystic fibrosis (Shawky et al., 2003), gangliosidosis type 2 (El-Harouni et al., 2002), phenylketonuria (Hashishe, 1992; Shawky et al., 2002a), metachromatic leukodystrophy (Meguid et al., 2003), mental retardation (Temtamy et al., 1991c, 1994), genetic deafness (Shazly et al., 1995; Ismail et al., 1996), spinal muscle atrophy (Essawi et al., 2007), disorders of sexual differentiation (Mazen et al., 2008), B-thalassemia (El-Kamah et al., 2003; Hussein et al., 2007), and Fanconi anemia (Temtamy et al., 2007d) and that of the general population.
Assessment of the relation of consanguinity and complex genetic disorders
According to Temtamy (2004) and Aglan (2010), studies of the Egyptian literature revealed a significant difference in the consanguinity rates in patients with congenital heart disease (El-Mazni and Temtamy, 1970; Bassili et al., 2000), cleft lip and palate (Temtamy and Loutfy, 1970), neural tube defect (Abul-Einen and Toppozada, 1966; Temtamy et al., 1991b), craniosynostosis (Shawky et al., 2002b), callosal dysgenesis (Ismail et al., 2003), childhood obesity (Mazen et al., 2002), and stunted growth (Zottarelli et al., 2007) compared with the consanguinity of the general population.
A low socioeconomic status, chronic tonsillitis, a positive family history of acute rheumatic fever and paternal consanguinity were significantly associated with the occurrence of rheumatic heart disease in a study of school children in Alexandria governorate (Abdel-Moula et al., 1998). Consanguinity rates were significantly elevated among Egyptian schizophrenia patients in the Nile Delta region (Mansour et al., 2010). The associations were similar to those observed with bipolar I disorder in an earlier study (Mansour et al., 2009).
There were no differences in the consanguinity rates in patients with Down syndrome (Meguid et al., 2001) and other chromosomal disorders (Temtamy, 2001) and the consanguinity rate in the general population. In a study carried out by Temtamy et al. (1991a), grandmaternal consanguinity was found to be a predisposing cause for the high frequency of Down syndrome due to nondisjunction in young mothers in inbred societies. The authors’ hypothesis was that homozygosity for autosomal genes may be one of the predisposing factors to nondisjunction in mothers, offspring of consanguineous parents, calling for larger studies in different societies. Mokhtar and Abdel-Fattah (2001a) using multiple logistic regression analysis showed the following factors to be independently associated with an increased risk of congenital heart diseases among Down syndrome patients: parental consanguinity, maternal parents’ consanguinity, mother’s antibiotic use in pregnancy, oral contraceptive use, and diabetes in the mother.
Association of consanguinity with the reproductive health
Mokhtar and Abdel-Fattah (2001b) strongly suggested that consanguinity plays a major role in the high rates of prenatal and infant mortality, as out of their studied sample of 730 couples with reproductive losses, the consanguinity frequency was 68.8%, with 56.2% first cousins. Prenatal loss and infant deaths were frequently encountered among consanguineous marriages (P<0.0001). Khayat and Saxena (2000) concluded that close consanguineous marriages had the highest infant and child mortality rates, even after controlling for selected nongenetic predictors of infant mortality.
There were no differences in the consanguinity rates in patients with primary infertility (Temtamy, 2001; Afifi et al., 2010) and the consanguinity rate in the general population.
Genetic counseling and screening on consanguinity
Eshra et al. (1989) studied the knowledge and attitudes toward premarital counseling at Menoufia governorate in Egypt. Their results showed a big lack of knowledge about the term even among educated respondents. The main source of information was mass media, followed by medical personnel, who should be more involved in this service. Most respondents, except unmarried males, had a favorable attitude toward both premarital counseling and examination of consanguineous marriage. This may be related to certain social changes in the village life, such as declining illiteracy, increased economic pressures, increase in the number of nuclear families, and a subsequent delay in beginning a family. It was unlikely that noncontraceptive users would resort to induced abortion instead of contraceptive methods. The authors recommended that educational programs should target unmarried males so that their attitude toward premarital counseling and examination can be altered, unmarried females in order to deter them from consanguineous marriage, and noncontraceptive users to make them choose safe contraceptive methods rather than induced abortion.
Over a period of 2 years, 86 couples (172 cases) were referred to the genetics clinic at NRC for premarital genetic counseling. About 73.25% had a family history of different genetic disorders. Consanguinity was found in 86.04%. Genetic investigations revealed chromosomal abnormalities in 26 cases (15.11%); 23 cases (13.37%) had other abnormal results. After genetic counseling, postconceptional follow-up was carried out for 30 couples; 10 of them required amniocentesis, which showed abnormal fetuses in two mothers. Other couples had normal offspring. Abdel-Meguid et al. (2000) concluded that premarital genetic counseling is of significant use in the detection of genetic disorders, and is an essential step in changing the attitude toward premarital testing and in reducing consanguineous marriage.
According to Afifi et al. (2010), the genetic counseling category was the most common according to their classification. It constituted 17% of the studied cases. The authors classified this category into premarital/preconceptional counseling (38.2%), history of recurrent abortion, intrauterine fetal death, still birth and infant deaths (38%), and couples with previous children with undiagnosed genetic disorders (23.8%). The consanguinity rate in this category of genetic counseling was 74.3%.
The relative abundance of recessive disorders in our population is clearly associated with the practice of consanguinity. This fact should be brought to the attention of health and social authorities. A shift in public, political, and professional attitudes is needed to establish comprehensive services. In line with the above, priority measures in dealing with the genetic risks of consanguinity should include the initiation of national birth registries, establishing a genetic preventive strategy including neonatal mass screening, especially for prevalent disorders, implementation of different screening programs (premarital diagnosis, carrier detection, etc.) followed by genetic counseling, including new technologies in addition to the improvement of the existing genetic services, and empowering the human resources. These measures should be supported and strengthened by defining the ethical, legal, religious, and cultural factors in formulating genetic services, clarifying and expanding physicians’ knowledge of genetic disorders, providing genetic education, and allowing for public debate.
In addition, to address the problem properly, healthcare systems need to incorporate and utilize research on inbreeding as a priority. This will help combat the deleterious impact of consanguinity on health. Standardized methodology should be used for all research on consanguinity. Research should also provide standardized and evidence-based culturally appropriate guidelines to assist in counseling for consanguinity. Moreover, the role played by joint collaboration with international institutions and the support of international organizations is crucial and should be encouraged and expanded. Hamamy et al. (2011) highlighted the importance of evidence-based counseling recommendations for consanguineous marriages and of undertaking both genomic and social research in defining the various influences and outcomes of consanguinity. Technological advances for rapid high-throughput genome sequencing and the identification of copy number variants by comparative genomic hybridization offer an unprecedented opportunity to identify genotype–phenotype correlations focusing on autozygosity, the hallmark of consanguinity.
Conflicts of interest
There are no conflicts of interest.
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birth defects; consanguinity; Egypt; genetic disorders
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