Vol 41 # 3 September 2009 - Kma.org.kw

September 2009
KUWAIT MEDICAL JOURNAL 193
the period from 1998 to 2000, a rate higher than that
reported in British Columbia, Canada (1/2500) [78,94] .
Among 1800 children with clinical findings
suggestive of genetic disease, the proportion found
to have chromosomal abnormalities was 28.3% in
the period 1999 - 2004 [95] .
Consanguineous marriage
Consanguinity was reported be present in
36% of marriages in the Sultanate of Oman [96]
and in up to 50% in some isolated areas. In these
areas, consanguinity is encouraged in many
families to promote homogeneity of the family [21] .
Consanguineous marriage is considered an
important predisposing factor to genetic diseases in
the Omani population [95] .
The prevalence of consanguinity was reported
to be twice as high among parents of children with
inborn errors of metabolism than among the general
population [78] . Consanguinity was reported to be
a predisposing factor for a higher rate of hearing
impairment among newborns in comparison with
rates in other countries in which newborn hearing
screening has been implemented [66] .
With the exception of hemoglobinopathies, the
frequency of autosomal recessive genetic diseases in
Oman is high in comparison with rates in Western
countries; this difference is thought to reflect the
frequency of consanguineous marriage in Oman [79] .
These findings have led to the implementation of
a national surveillance system and a preventive
genetic program [97] .
Premarital medical counseling
To our knowledge, no premarital medical
counseling is offered to the general population
of Oman, although genetic counseling clinics at
the Sultan Qaboos University and the Ministry
of Health serve subsets of the population [98] . The
implementation of premarital and genetic counseling
clinics has been recommended to reduce the burden
of genetic diseases, with the proposal that these
services be integrated into primary health care
clinics for the purpose of improving accessibility to
the general population [98,99] .
Newborn screening
A national screening program for hypothyroidism
was implemented in Oman in 2006; the prevalence
at birth of detected cases is 1/2750 live births per
year [49] . In addition, a special screening program for
hemoglobinopathies and inborn errors of metabolism
has been run by the Sultan Qaboos University Hospital
for the last 10 years [49] . Attempts are currently in place
to generalize this program to the national level to
include all Omani newborns, especially those at high
risk [49] .
In a review of the national newborn hearing
screening initiative, the reported rate of hearing
impairment was 1.2/1000 live births; the cost of
screening was US$ 7.10 per newborn [66] .
STATE OF QATAR
Hemoglobinopathies occur with a high
frequency in the population of Qatar [58] . Betathalassemia
is reported to have a wide variation in
its underlying molecular sequences as a result of
immigration and intermarriage between the Qatari
population and surrounding countries [100] . The
high prevalence of hemoglobinopathies in Qatar
stimulated the public health authorities to include
these disorders in the national newborn screening
program [8] .
Consanguineous marriage
In two survey studies in Qatar, about half of the
respondents reported consanguineous marriage, of
which first-cousin marriage was the most prevalent
type. Such marriages were associated with high
rates of genetic and chronic diseases in comparison
with the general population [22,101] . Moreover, this
was reported to predispose the Qatari population to
higher rates of rare genetic diseases such as Ehlers
- Danlos syndrome, homocystinuria, and cystic
fibrosis in comparison with Western populations [102] .
The last two disorders were reported as major
population health problems in Qatar [30,103] with a
prevalence at birth for homocystinuria of at least
1/3000 live births, the highest in the world [104] .
Consanguineous marriage was also reported to be
an important predisposing factor for hearing loss in
newborn infants [67] .
Premarital medical counseling
In an assessment of women’s knowledge
regarding preconceptional health, 20.4% of Qatari
women reported taking a folic acid supplement in
the preconception period as a preventive measure,
and 14% knew that such supplements can prevent
birth defects (neural tube defects) [50] .
Despite important progress in the
implementation of genetic services in the State of
Qatar, currently there are no national premarital
or genetic counseling clinics that cover the
entire population. Participants at the first Qatar
International Conference on Newborn Screening,
held in November 2007, concluded that further
development of premarital and genetic counseling
would be crucial to decreasing the burden of genetic
diseases, especially in the view of the high frequency
of consanguineous marriage and of several genetic
diseases [22,30,98,102,104].