Practice

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Genetic disorders in the Arab world

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Lihadh Al-Gazali, Hanan Hamamy, Shaikha Al-Arrayad

Available evidence suggests that congenital and Department of

Paediatrics, Faculty
genetic disorders are responsible for a major Summary points of Medicine and
proportion of infant mortality, morbidity, and handi- Health Sciences,
cap in Arab countries.1–3 The population of the region United Arab
The population in Arab countries is characterised Emirates University,
is characterised by large family size, high maternal and Al-Ain, United Arab
by large family size, high maternal and paternal
paternal age, and a high level of inbreeding with Emirates
age, and a high level of inbreeding
consanguinity rates in the range of 25-60%.1 2 4 w1 Cer- Lihadh Al-Gazali
professor in clinical
tain disorders are common throughout the Arab Genetic disorders are common in Arab countries genetics
world, including haemoglobinopathies, glucose-6- and account for a substantial proportion of National Center for
phosphate dehydrogenase deficiency, different con- physical and mental handicap Diabetes,
genital malformations caused by recessive genes, and Endocrinology and
several metabolic disorders.1 2 Other recessive dis- Genetics, Amman,
Generally, no public health measures are directed Jordan
orders cluster in certain groups and subpopula- at the prevention of congenital and genetic Hanan Hamamy
tions.1 2 5 Genetic services vary in extent and coverage disorders, which is also restricted by cultural and professor in human
in different Arab countries, but mostly they remain genetics
legal limitations
patchy, selective, and inadequate.2 5 6 Salmaniya Medical
We present the magnitude of the problem and the Complex, Ministry
Some countries have started cost effective of Health, Bahrain,
currently available genetic services in Arab countries, prevention programmes for certain common Kingdom of
together with recommendations for developing strate- genetic disorders, such as premarital carrier Bahrain
gies for prevention. In view of the good coverage of Shaikha Al-Arrayad
screening for haemoglobinopathies consultant geneticist
primary healthcare systems in most Arab countries,
community genetic services that include screening Correspondence to:
Strategies for the prevention of genetic disorders
L Al-Gazali
programmes could be strengthened by the efficient in this region should include integration of [email protected]
training of primary healthcare personnel.2 community genetics into the primary healthcare
system, education, and strengthening the existing BMJ 2006;333:831–4

Why are genetic disorders common in specialised genetic service

the Arab world?
Available data suggest that genetic and congenital dis-
orders are more common in Arab countries than in x The rate of children with Down’s syndrome in some
industrialised countries; recessively inherited disorders Arab countries exceeds the 1.2-1.7 per 1000 typical for
account for a substantial proportion of physical and industrialised countries. This may be related to the
mental handicap.1–3 6 Several factors may contribute relatively high proportion of births to older mothers in
to the high prevalence of genetically determined the region (up to 50% of children with Down’s
disorders: syndrome in the region are estimated to be born to
x High consanguinity rates—25-60% of all marriages
mothers aged 40 or over)1 2 7 w3
are consanguineous, and the rate of first cousin
x The lack of public health measures directed at the
marriages is high (figs 1 and 2; table A on bmj.com).4 w1
prevention of congenital and genetic disorders, with
In addition, isolated subpopulations with a high level of
inadequate health care before and during pregnancy,
inbreeding exist. Furthermore, in many parts of the
particularly in low income countries2
Arab world the society is still tribal.5 6 w1 This has made
the epidemiology of genetic disorders complicated, as x Services for the prevention and control of genetic
many families and tribal groups are descended from a disorders are restricted by certain cultural, legal, and
limited number of ancestors and some conditions are religious limitations, such as the cultural fear of
confined to specific villages, families, and tribal groups, families with genetic diseases being stigmatised within
leading to an unusual burden of genetic diseases in their community and the legal restrictions on selective
these communities (table B on bmj.com)1 2 5 termination of pregnancy of an affected fetus.1 2 5 6
x The high prevalence of haemoglobinopathies,
glucose-6-phosphate dehydrogenase deficiency, auto-
somal recessive syndromes, and several metabolic Extra tables, boxes, figures, and references w1–w12 are on
disorders (fig A and table C on bmj.com)1 2 5 bmj.com

BMJ VOLUME 333 21 OCTOBER 2006 bmj.com 831

Practice

Rate (%)
50
Sources
We collected information for this report from published literature through a

BMJ: first published as 10.1136/bmj.38982.704931.AE on 19 October 2006. Downloaded from https://www.bmj.com/ on 26 September 2025 by guest.
40
Medline search, from experts working in medical genetics and providing
genetic services, and from personal archives of references taken from locally 30
published medical journals in Arab countries. The main documents that we
used extensively as references include the World Health Organization East-
20
ern Mediterranean Regional Office publication Community Control of Genetic
and Congenital Disorders2 and the Oxford Monographs on Medical Genetics on
10
Genetic Disorders among Arab Populations.1

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Despite the difficulties that exist, several Arab countries

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have initiated cost effective prevention programmes Fig 2 Average rates of marriages between first cousins among
for certain common genetic disorders. Arabs. UAE=United Arab Emirates
Premarital carrier screening
A screening programme for genetic carriers is a
systematic attempt to identify and counsel as many
will not be effective in reducing the burden of genetic
people at genetic risk in a population as possible,
diseases, as many carrier couples go ahead with their
whether or not they have a family history of a genetic
planned marriage.2 Arab countries should take note of
disorder. Several countries in the Arab region have
the comprehensive primary care based programme for
introduced premarital screening for haemoglobino-
thalassaemia screening and genetic counselling that
pathies. In Saudi Arabia, a Royal decree was passed in
was started in 1996 in Iran (a Muslim country where
2003 for a mandatory premarital screening test
termination of pregnancy was not legal). The
followed by non-directive genetic counselling for
programme identifies carrier couples before marriage
haemoglobinopathies; the decision to marry is then
and offers counselling, thus providing them with the
left to the couple. Prenatal diagnosis and termination
opportunity to separate. However, an audit in 1999
of pregnancy are not offered to carrier couples, even
showed that couples were still opting to marry rather
though a 1990 ruling (Fatwa) allows termination of
than separate and that they requested prenatal diagno-
pregnancy in the first 120 days after conception if the
sis and selective termination of pregnancy.9 Amend-
fetus is shown beyond doubt to be affected with a
ment of the law in 2001 to allow the option of selective
severe malformation that is not amenable to
termination of pregnancy up to 15 weeks’ gestation for
treatment.w4 Similar programmes exist in other Arab
thalassaemia resulted in a 70% reduction in the annual
countries such as Bahrain, the United Arab Emirates,
birth rate of affected infants.9
Tunisia, and Jordan (box A on bmj.com).5 6 8 w5
However, experience shows that if options are not
Family oriented approach to prevention
made available to carrier couples such programmes
When a gene for a recessive disorder is present in a
family, the diagnosis of the disease in a child serves as a
marker of the extended family that is at increased
genetic risk. In communities where a high level of con-
sanguinity exists and large families are common,
family oriented screening offers an alternative to
population screening for identifying current and
future couples at risk of producing affected children.2 10
This approach is particularly suitable to populations
with a high level of consanguinity and clustering of
rare genetic diseases in certain tribes or families. It
produces a high yield of information on carriers and
couples at risk, family members understand the condi-
tion because they have had contact with an affected
child, and usually one gene variant is present in a given
family or tribe, simplifying and reducing the cost of
DNA based diagnosis.2 10 This approach was tested in
Pakistan in 15 large consanguineous families with

thalassaemia and was found to be feasible. The
programme was successful because carriers had the
option of prenatal diagnosis and selective termination
of pregnancy, which is legal in Pakistan. A similar
approach was implemented in the Arab Negav
Bedouin community, where the genetic data on carrier
Affected male Affected female Consanguineous marriage
status for genetic disorders common in this commu-
nity were incorporated into the decision making pro-
Fig 1 Two Arab pedigrees showing high level of consanguinity, cess of arranged marriages, giving carriers the option
large family size, and several affected children in different sibships to choose a non-carrier partner.w6 w7

832 BMJ VOLUME 333 21 OCTOBER 2006 bmj.com

 Practice

Neonatal screening programmes

Clinical screening of newborn infants involves system- A patient’s perspective
atic examination with a checklist of all births, whether

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When I married my cousin, I thought about genetic diseases and the
alive or stillbirths, by an experienced paediatrician to
probabilities of my children having those diseases. I knew that three sisters
detect any abnormalities.2 The United Arab Emirates who were distantly related to me had some problems, which I thought
and Oman have established national or hospital based could have happened by chance or because their mother was old when she
registries for congenital abnormalities. Some of these had them.
registries report to the International Clearing House My first pregnancy was normal until the sixth month, when I was told
for Birth Defects.w8 that my baby had water in his brain. It was hard not to know what exactly
Biochemical neonatal screening programmes in the was wrong with the baby. The waiting was over when my baby was born on
29 August 2002. I found that he had many congenital abnormalities. In the

Protected by copyright, including for uses related to text and data mining, AI training, and similar technologies.
region have started as research projects that have beginning, the doctors did not know what the actual problem was. I later
provided valuable information on the incidence of hae- found out that another branch of my family had two children with similar
moglobin disorders, glucose-6-phosphate dehydroge- problems, which made me realise that my child, the three sisters, and the
nase deficiency, congenital hypothyroidism, two other children all have the same condition. The geneticist explained to
phenylketonuria, and cystic fibrosis.2 National screening us that it is inherited and I have 25% risk of having another affected child. I
programmes for phenylketonuria (started in the United agreed to do genetic studies to find the gene, because I was concerned
about the next pregnancy. My second child was normal, and that was a
Arab Emirates in 1995) and for congenital hypothy-
blessing from God.
roidism (started in Saudi Arabia in 1985 and the United The gene was located in my family, and the geneticist told us that in the
Arab Emirates in 1998) have been successful.5 11 w9 next pregnancy the baby can be tested and terminated if found to be
Jordan started a similar programme in certain areas in affected, but I would have to go abroad for that. When I became pregnant
2006, with the intention of expanding it nationally. with my third child, I decided not to go for the test because as Muslims we
Screening of newborns for phenylketonuria in Gaza, consider life itself as a test. When God gives me a child with a problem, it is
like he is testing me to see how I accept, help, teach, and be patient with this
started in 1994, covers only the government clinics,
child. I am sure that in every creation in this world there is a wisdom that is
although two third of all newborns are delivered in known only by God. I am six months pregnant now, and ultrasound has
United Nation Relief and Work Agency clinics where no shown that the baby is affected.
phenylketonuria screening is offered.w10 The Emirate of Female patient, United Arab Emirates
Abu Dhabi introduced screening for sickle cell disease
with high performance liquid chromatography in 2002.5
Plans exist to make this a national programme across about the possibility of finding an abnormality and
the United Arab Emirates. with no explanation of the consequences. If the results
Strong evidence exists to show that metabolic suggest an abnormality, the woman is referred for a
diseases constitute a significant cause of neonatal and detailed anomaly scan, and further invasive tech-
infant death among Arabs.1 2 Therefore, screening pro- niques, such as amniocentesis, might be needed. The
grammes using the Guthrie system would be valuable couple will then have to face the major decision of
in the prevention and early treatment of these selective termination of a fetus affected by severe
disorders. Saudi Arabia has an active selective newborn genetic or congenital disorder (see patient’s story). In
screening programme for inherited metabolic diseases most Arab countries, except Tunisia,w5 selective termi-
that reaches 10-20% of newborns. Screening is based nation of pregnancy is not legally available. This often
on dried blood spot samples and tandem mass leads to ethical dilemmas.2 5 It is therefore important
spectrometry. The Saudi experience indicates that to clarify the role of ultrasonography for fetal anoma-
approximately 50% of diseases identified by this lies in obstetric services in this region.2 5
method are manageable.11 However, in many cases
Pre-implantation genetic diagnosis
treatment does not prevent the considerable morbidity.
Pre-implantation genetic diagnosis is welcomed in
Economic cost should also be taken into account.
Arab countries, as it does not involve the decision to
terminate the pregnancy. A recent study from United
Antenatal screening for chromosome abnormalities
Arab Emirates found that most people favour this
and congenital malformations
mode of prevention.12 The procedure is, however, still
In some industrialised countries, pregnant women
in its early stages, with many limitations. Pre-
have non-invasive screening for Down’s syndrome and
implantation genetic diagnosis involves assisted repro-
other congenital anomalies through the assessment of
ductive technology. It is a complex, time consuming,
maternal serum markers and ultrasonography at
and expensive procedure that is available only at a
around 11 weeks post-conception. This is followed by
small number of centres and for a limited number of
invasive prenatal diagnosis if the test is positive, giving
genetic conditions. It is available in Saudi Arabia, where
the couple the option of selective termination of preg-
several single gene disorders can be diagnosed.11 w11
nancy of an affected fetus. As termination is not legal in
Various numerical chromosome aberrations such as
many Arab countries, the value of introducing prenatal
trisomies 21, 13, and 18 and sex chromosome
screening programmes is questionable. A better
abnormalities are being diagnosed in Jordan by use of
method of prevention would be the general availability
the fluorescent in situ hybridisation technique after in
of preconception information and family planning for
vitro fertilisation in a few private obstetric hospitals.6
older mothers, which would be expected to lead to a
Pre-implantation genetic diagnosis for common disor-
reduction of around 50% in the frequency of new cases
ders such as
thalassaemia could be included in future
of Down’s syndrome.2
prevention programmes.
Ultrasound scanning is routinely done for
pregnant women during their first antenatal visit in Role of education in preventing genetic disorders
most Arab countries. The scan is usually done without Medical genetics education assumes particular impor-
any pretest information being given to the couple tance in the region because of the high frequency of

BMJ VOLUME 333 21 OCTOBER 2006 bmj.com 833

Practice

Box 1: Premarital advice about consanguinity at the primary Role of GPs outside the Arab world
healthcare level2

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General practitioners looking after Arab families
• Detailed family history should be taken to spot any genetic disease outside the Arab world should always inquire about
• The couple should be asked about any known inherited disease in the the presence and degree of consanguinity. They
family, history of birth defects, impairment of hearing or vision, learning should be familiar with its risk of increasing genetic
difficulties, any unexplained neonatal or infant deaths, and failure to thrive disorders (box 2) and be able to detect genetic risk in
among infants such families by asking about a family history of
• If a genetic disorder is suspected in the family, the couple should be learning difficulties, anaemia, malformations, and
referred to a specialised genetic counselling clinic handicapping disorders. They should also be able to
• If no known inherited disorder exists in the family, first cousins intending provide counselling information about risk and

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to marry are informed of the doubling of the risk for birth defects13 screening for disorders known to be common in these
communities, such as thalassaemia, sickle cell disease,
and glucose-6-phosphate dehydrogenase deficiency.
genetic disorders and the generally low genetic literacy.
Inadequate numbers of specialised personnel experi-
enced in medical genetics are available, genetics is not structured courses in provision of community genetic
emphasised in medical curriculums, and effective teach- services were supplied to family doctors in Egypt.w12
ing methods and integration between medical genetics One of the most important aspects of prevention
and other related clinical specialties are lacking.2 In most programmes for genetic disorders is to have a well
Arab countries, health services are delivered by a informed and educated population. Saudi Arabia, the
network of primary healthcare centres where workers United Arab Emirates, and Bahrain have introduced
are not adequately trained to deal with common genetic genetics information, particularly on haemoglobin-
disorders. They need to acquire the necessary skills in opathies, to the public through health workers and pri-
first level counselling to provide premarital and precon- mary healthcare centres and through the media, but no
ception counselling and counselling before newborn studies have measured the effect of such programmes.
and carrier screening (box 1). Genetic counselling for
people or families at high risk or those with
Conclusion
unfavourable test results is provided by the few
specialists in the field. The effect of genetic and congenital disorders in Arab
The World Health Organization Eastern Mediterra- countries is high. Genetic services are inadequate and
nean Regional Office publication Community Control of do not cover all the population. Preventive strategies,
Genetic and Congenital Disorders2 provides an outline of summarised in box 2, should be adopted at a national
the basic requirements to strengthen the capabilities of level, with development of regional and international
primary healthcare workers in preventing genetic collaboration and with technical support from WHO.
diseases (box B on bmj.com). Recognising the need for Contributors: LA-G developed the idea, searched the literature,
genetic services (fig B on bmj.com), Jordan is developing wrote the paper, and was responsible for the overall
a national strategy for the prevention of genetic diseases, organisation. HH searched the literature, helped in writing the
paper, and provided ideas on the content of the paper. SA-A
which includes provision of community genetics searched the literature and provided some information relevant
training and education courses for primary healthcare to the paper. LA-G is the guarantor.
physicians and nurses.6 Bahrain has started a pro- Competing interests: None declared.
gramme for the dissemination of information through
primary healthcare physicians.8 The service has been 1 Teebi A, Farag T. Genetic disorders among Arab populations. New York:
Oxford University Press, 1997. (Oxford Monographs on Medical Genet-
standardised, and premarital counselling has become ics No 30.)
widely available through all health centres. At one time, 2 Alwan A, Modell B. Community control of genetic and congenital disorders.
Alexandria: Eastern Mediterranean Regional Office, World Health
Organization, 1997. (EMRO Technical Publication 24.)
3 Christianson A, Howson C, Modell B. March of Dimes global report on birth
defects: the hidden toll of dying and disabled children. New York: March of
Box 2: Strategies for the prevention and control of genetic and Dimes, 2006.
congenital disorders in the Arab world2 4 Consang.net. Background summary (updated 24 May 2005).
www.consang.net/summary.html (accessed 22 Aug 2006).
• Integration of community genetic services into primary healthcare 5 Al-Gazali LI, Alwash R, Abdulrazzaq YM. United Arab Emirate: commu-
systems, such as the integration of preconception counselling and screening nities and community genetics. Community Genet 2005;8:186-96.
into the existing reproductive health programmes in the country; this 6 Hamamy H, Al-Hait S, Alwan A, Ajlouni K. Jordan: communities and
community genetics. Community Genet (in press).
requires education and training of primary health workers 7 Wahab AA, Bener A, Teebi AS. The incidence patterns of Down syndrome
• Education of the public through updating high school curriculums and in Qatar. Clin Genet 2006;69:360-2.
8 Al Arrayed S. Campaign to control genetic blood diseases in Bahrain.
mass media educational campaigns that are scientifically based and
Community Genet 2005;8:52-5.
appropriately delivered with respect to local cultural and religious beliefs 9 Samavat A, Modell B. Iranian national thalassaemia screening
• Strengthening human resources by updating medical and nursing college programme. BMJ 2004;329:1134-7.
10 Ahmed S, Saleem M, Modell B, Petrou M. Screening extended families for
curriculums related to the practice of human genetics, with more emphasis genetic hemoglobin disorders in Pakistan. N Engl J Med 2002;347:1162-8.
on practical guidelines for how to approach common genetic and 11 Al-Odaib AN, Abu-Amero KK, Ozand PT, Al-Hellani AM. A new era for
congenital disorders preventive genetic programs in the Arabian Peninsula. Saudi Med J
2003;24:1168-75.
• Initiation of population screening programmes and national birth registries 12 Al-Gazali LI. Attitudes toward genetic counseling in the United Arab
• Introducing new technology and strengthening of existing genetic service Emirates. Community Genet 2005;8:48-51.
13 Stoltenberg C, Magnus P, Skrondal A, Lie RT. Consanguinity and recur-
• Defining the ethical, legal, religious, and cultural factors in formulating rence risk of birth defects: a population based study. Am J Med Genet
genetic services, such as specific guidelines for prenatal genetic diagnosis 1999;89:423-8.
and termination of a fetus affected by a genetic or congenital disease (Accepted 7 September 2006)
doi 10.1136/bmj.38982.704931.AE

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