Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Research Article, J Genet Disor Genet Rep Vol: 4 Issue: 1

Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan

Jehangir Khan*, Arshad Ali, Bakht Tarin Khan, Zaheer Ahmad and Waqas Ahmad Shams
Zoology Department, Abdul Wali Khan University Mardan, Buner Campus, Khyber Pakhtunkhwa, Pakistan
Corresponding author : Dr. Jehangir Khan
Zoology Department, Abdul Wali Khan University Mardan, Khyber Pakhtunkhwa, Pakistan
Tel: +923334399893
E-mail: [email protected]
Received: February 10, 2015 Accepted: February 22, 2015 Published: February 25, 2015
Citation: Khan J, Ali A, Khan BT, Ahmad Z, Shams WA (2015) Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan. J Genet Disor Genet Rep 4:1. doi:10.4172/2327-5790.1000121


 Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan

Objective: Consanguineous unions are a deeply rooted social practice among traditional societies in Pakistan. Despite their presumed social advantages, they can result in several genetic disorders. The present study was designed to study the epidemiological trends of consanguineous marriages in district Buner, KPK, Pakistan. Method: A survey from March to September, 2014, was conducted at twelve sampling areas in Tehsil Gaggra of district Buner, Khyber Pakhtunkhwa (KPK), Pakistan. Results: The couples (n=70) participated were 1st cousin (84.3%) and 2nd cousin (15.7%). The minimum age of the couples at the time of marriage was 16 and maximum 30 years, however, maximum marriages were observed at the age of 18year. The offspring were thoroughly observed for the health complications like anemia (28.6%,), obesity (17.1 %), blood pressure (18.6%), diabetes (18.6%), asthma (10%) and respiratory disease (7.1%) respectively. The percentage of malformation found in the live children of consanguineous married couples were mental retardation (28.7%), deafness and speech disorder (23.3%), anemia (14.7%), syndrome (15.5%), dwarfism (3.9%), blindness (8.5%) and skin diseases (5.4%). Among the surveyed areas, Chagharzi has the highest (41.3%) trend of cousin marriages followed by Shalbandi (17.1%) and Bajkata (12.9%). Additionally, the health conditions of the parents (couples) were also observed for the possible health concerns, which were obese (21.4%) and weak (42.8%) while 35.7% were normal. Conclusions: Cousin-marriages are a norm in the population of district Buner. Its effects on inherited disorders deserve comprehensive genetic, education, and premarital genetic counseling programs for awareness and education

Keywords: Consanguinity on health; Endogamous population; Genetic counseling


Consanguinity on health; Endogamous population; Genetic counseling


Consanguinity (Kon’san’-guin’it E), is a word derived from two Latin words: con meaning ‘shared’ and sanguis meaning’ blood’, and is used to describe relationship between two people who are related as they share common ancestors (a shared blood relationship). Consanguineous marriages refer to marriages between two people, genetically related, by descent, from a common ancestor (F ≥ 0.0156) [1].
Consanguineous mating and inbreeding have been a subject of human biological inquiry since George Darwin, himself the son of a marriage between Charles Darwin and his cousin Emma Wedgewood [2], who investigated the relative academic and athletic performance of people from consanguineous and non-consanguineous marriages [3,4]. Among the European populations the consanguinity rates are generally less than 0.5%, while in North Africa, Saudi Arabia and Southern and Western Asian populations 22–55% [5,6]. Consanguinity occurs in all countries of the Middle East; however, the prevalence varies significantly, ranging from 10.6% to 67.7% [7]. The current data indicate that 20% of marriages are between first cousins and 10.4% are to second cousins in all over the word. It is more dominant in some parts of Middle East, Africa and Asia and Saudi Arabia. They are very common in Pakistan, about 60% of the marriages are reported to be consanguineous among them 80% are between first cousins [8,9]. On the other hand, adverse effects of consanguinity in terms of reproductive behavior, reproductive wastage, rare autosomal recessive disorders, higher morbidity and mortality and genetic problems have been described extensively, in addition, increased rates of morbidity and mortality have been directly related to the degree of inbreeding [10]. The purpose of this study was to assess the prevalence of consanguineous marriages and the differentials by age at marriage, fertility and child morbidity and mortality experiences of the women who were married to their cousins and others. The patterns of age at marriage, fertility and proportions of children dead and other health complications will help to assess the validity of the often cited hypothesis that risks to child health due to genetic reasons are higher among the children of the parents with close blood relations.

Materials and Methods

District Buner is a backward area of Malakand division of Khyber Pakhtunkhwa (KPK), Pakistan, where the literacy rate is very low. This study is an effort towards the epidemiological trends of cousin marriages and the health concerns. A survey from March-September, 2014, was carried out in twelve areas of Tehsil Gaggra (shalbandi baba, amnawar, bar kaley, dewana baba, tahta band, Kalpani, Cheena, Budal, Matwani, Kulyari, Bajkata and Chanar.), Buner, KPK. Each individual was interviewed in Pashtu using a purpose-designed questionnaire that inquired about complete history of family and the health complications, and age etc. If married, the women/men were asked about consanguinity with their husbands/wives and if the answer was yes, they were asked about the level of consanguinity (i.e. first or second cousins). Furthermore, each woman/man was asked about the consanguinity of her/his parents and the degree of consanguinity. The study and associated protocols were designed based on national ethical legislative rules and approved by Local Ethic Committees of AWKUM, Buner Campus. All interviews were taken after written consent of the individuals, according to the updated version of the declaration of Helsinki [11].


A total of 70 couples participated in the present survey in which the number of 1st cousin (84.3%) (n=59) were more as compared to 2nd cousin (15.7%) (n=11) as shown in (Figure 1). The 1st cousin shared grandparents but have different parents while the couple of 2nd cousin shared grand-grandparents but different grandparents.
Figure 1: The blood relation of couples participated in the present survey.
The health conditions of couples were also determined during the survey; the 38.5% couples were weak followed by obese couples (32.8%) and weak couples (28.5%) (Table 1).
Table 1: Health complications in couples (cousin marriages)
The age factor at the time of marriage was also considered. The highest incidence of marriage was held at 18 years of age (21 couples/70 couples=30%) followed by 25 years (16 couples/70 couples=22%), 27 years (10 couples /70 couples =14.3%), 22 years (08 couples /70 couples=11.4%), 16 years (08 couples /70 couples=11.4%) and 30 years (07 couples /70 couples=10%) (Figure 2).
Figure 2: Age wise distribution of couples at the time of marriages.
Moreover, the present study found maximum (71.4%) birth rate of normal children as compared to birth rate (18.6%) of abnormal children. The 10% of the couple were even unable to give birth. Among the abnormal births, three categories of births were identified having dead children (38.6%), live birth (51.4%) and still birth (10%) (Table 2).
Table 2: Percentage of delivery status in consanguineous married couples.
Additionally, the different health complications were also observed among the children during the study, the prevalence rate of anemia was 28.6%, Blood pressure (18.6%), diabetes (18.6%), obesity (17.1%), asthma (10%) and respiratory diseases (7.1%) (Figure 3).
Figure 3: Percentage of different health complications among the children.
Among the normal births as shown (Table 2), the children were suffering from some genetic diseases: mental retardation (28.7%), deafness and speech disease (23.3%), syndromes (15.5%), anemia (14.7%), blindness (8.5%), skin diseases (5.4%), dwarfism (3.9%) as shown in Figure 4a.
Figure 4a: Prevalence of genetic disorders among live children.
Among the twelve surveyed areas in Tehsil Gaggra, the occurrence rate of consanguineous marriages was highest in Chagharzi (41.3%) followed by Shalbandi (17.1%) and Bajkata (12.9%), Dewana baba (11.4%), Matwani (8.6%), Chena (7.1%), Tahta band each (7.1%), Kalpani (5.7%), Barkali, Chanar and Kulyari each (4.3%) and lowest was in Budal (2.9) (Figure 4b).
Figure 4b: Percentage of cousin marriages in different areas of Tehsil Gaggra.


Pakistan is a country where consanguineous marriages are a social norm and are a societal norm and are widely practiced. Strengthening family relationships and keeping wealth within the family are some of the reasons for intermarriages. Previous studies have shown that in Pakistan consanguinity is seen in 60% of marriages out of 80% were between first cousins. The inherited disorders have been found to be twice as common in consanguineous marriages versus non consanguineous marriages [12]. In our study, out of 70 couples, the 84.3% couples (n=59) were 1st cousin while 15.7% (n=11) were 2nd cousin. The present findings have observed higher frequencies of cousin marriages as compared to previous reports in the region.
A number of studies have focused on an increased level of morbidity and mortality among the offspring of consanguineous parents. A study conducted by Perveen and Rehman, 2012 [9], have reported approximately 74% rate of abortions and 21.1% that of still births in consanguineous couples. The results of present study showed the abnormal birth rate (18.6%), while 10% of the couple was unable to give birth (Table 2). Among the couples having abnormal births, live birth was 51.4% and still birth (10%); our result reports low as compared to above mentioned values, while the dead children frequency is 38.6% which is higher than the other studies.
Multiple studies have shown that autosomal recessive and other major genetic disorders, inflammatory bowel disease, familial multiple sclerosis, bronchial asthma, congenital heart disease, hearing impairment, spine bifida, several problems of pregnancy and schizophrenia, occur at a higher prevalence in consanguineous mating [10]. In current study the malformation has been found to be most common were, mental retardation (28.7%), deafness and speech disorder (23.3%) and syndromes (15.5%) (Figure 3). These finding and others stress the need for decrease in the rate of consanguineous marriages in the Bunerian population.
Compared with other Middle Eastern countries, the consanguinity rates in our study population are higher than in Bahrain, Egypt and Lebanon but similar to that reported from Oman and Yemen and significantly lower than the rates in Jordan, Kuwait, Iraq and UAE [10]. An interesting finding of our study was that the prevalence of consanguinity in the married women was significantly lower than in their parents. This may be an indication that the prevalence of consanguinity is actually decreasing among the Bunerian population. However, a study from Norway, on women of Pakistani origin, showed that a decrease in the consanguinity prevalence was the modern trend [13].
In this study a total of 70 couples participated in which the number of 1st cousin (84.3%) were more as compared to 2nd cousin (15.7%) (Figure 1). The 1st cousin shared grandparents but have different parents while the couple of 2nd cousin shared grand-grandparents but different grandparents. In this way a report [10] showed similar trend of first cousin (42.6%) and 8.8% married to a second cousin. This finding confirms that inbreeding is the preferred option in those couples who are themselves closely related. Furthermore, one of the important aspects of our study is that the observation of maximum marriages practiced are at 18 years of age (21 couples/70 couples=30%) followed by 25 years (16 couples/70 couples=22%), marriages at such earlier ages might be one of the causes of still birth or abortion in the study areas (Figure 2).
Owing to these facts, it will not be possible to entirely discourage cousin marriages in societies such as that of Buner, due to the strong traditions and family values, despite the fact that several genetic diseases are prevalent in the country. However, it is advised that in families with a serious autosomal recessive genetic disorder the practice of consanguinity must be discouraged in an attempt to prevent the birth of an affected child. In this respect, awareness programs should be implemented in Buner specifically, in Pakistan generally, to inform people about the frequently encountered genetic problems and their long term consequences.


This study shows a higher incidence of certain diseases in consanguineous couples and that in a population with a high rate of consanguinity, there is a significant increase in the prevalence of common. Additionally, there is a need for more active awareness programs to inform the general public about the advantages and disadvantages of consanguineous mating, in an attempt to reduce the prevalence of consanguinity in a population where great preference is given to family traditions and values.


We are highly thankful to the individuals participated in the study, and the elders of the tribes who encouraged and cooperated with us during the sampling.

Competing Interests

The authors have declared no competing interests.

Authors Contribution

Conceived and designed the research: JK BTK. Performed the experiments: AA. Analyzed the data: JK BTK AK. Contributed reagents/materials/analysis tools: JK BTK. Wrote the paper: AA. Provided suggestions and comments on the manuscript: JK BTK.


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