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

September 2009
KUWAIT MEDICAL JOURNAL 191
published research on genetic diseases and on the
factors that have contributed to high rates of these
diseases in the region. Challenges and activities were
discussed for each country in our effort to provide
a comprehensive assessment and to identify current
gaps in knowledge and services that, if remedied,
would improve population health genomics in
the GCC countries. Most of the available research
originating from the GCC countries has investigated
rates of genetic diseases in different settings (e.g.,
population based and hospital based). Some of this
research has addressed the role of a predisposing
factor, mainly consanguineous marriage. Diseases
such as the hemoglobinopathies were the most
commonly investigated, and in some of the GCC
countries we found no reports investigating other
genetic diseases such as neurological, muscular,
and metabolic disorders. Table 3 presents the most
recently published rates of genetic diseases in the
GCC countries. We sought to retrieve data that
represented the entire population of the country
or a large proportion of the population wherever
possible. In cases where we could not find such
sources of data, hospital-based research or data on
other specific subgroups were presented. Despite
these differences, Table 3 shows that the rates of
genetic diseases in the different GCC countries were
generally similar. Usually, however, rates derived
from sources of data such as national screening
programs and national surveys were lower than
those estimated from hospital-based studies.
KINGDOM OF BAHRAIN
Metabolic diseases in Bahrain were reported in
1995 to have a prevalence of 1/1000 live births [19] .
Alpha and beta thalassemia trait were reported
among 20.0% [54] and 5.7% [60] respectively of the
studied group. G6PD deficiency was found in
18% of males and 10% of females [45] . In addition to
congenital hypothyroidism, genetic blindness and
deafness have been reported by several researchers
and ministry of health correspondents [15,19] as
important genetic diseases in Bahrain. Sickle cell
disease showed a drop in prevalence over the last
18 years, from 2.1% in 1984 to 0.9% in 2002, and
the prevalence of sickle cell trait declined from
26.4% to 16.3 % [15]. These declines, reaching 60% in
some cases, were attributed to the implementation
of genetic services in the early 1980s. The first
genetic clinic was established in 1984 for families at
risk of genetic diseases; this was accompanied by
community and public health awareness programs.
In 1992, the National Committee for the Prevention
of Genetic Diseases in Bahrain was formed with the
aim of reducing the burden of hemoglobinopathies;
in 1993, premarital counseling (PMC) services
were established with the aim of reducing the
prevalence of genetic diseases in general and
hemoglobinopathies in particular [45] .
Consanguineous marriage
As was observed with respect to the outcomes
of the genetic preventive campaign implemented in
Bahrain in the early 1980s, a significant reduction
in the rate of consanguineous marriage – from
39% to 20% over 18 years – was observed in the
country [15] . This reduction in consanguinity was
accompanied by a reduction in the prevalence of
genetic diseases [15,19] .
Premarital medical counseling
Premarital medical counseling is mandatory in
Bahrain for all couples planning to get married [45] .
Blood diseases such thalassemia and sickle cell
anemia are a focal point in the counseling program.
Newborn screening
Newborn screening is currently carried out for
blindness and deafness. The Ministry of Health
plans to introduce a national screening program
for hemoglobinopathies and hypothyroidism.
This program will be centralized, with central data
supported by government funding [19] .
UNITED ARAB EMIRATES
An evaluation of the burden of
hemoglobinopathies among preschool children
showed a prevalence of 9.1% for G6PD deficiency
and of 8.7% for beta thalassemia. These figures were
considered higher than those for western countries,
but were comparable to rates in surrounding GCC
countries [51] .
Consanguineous marriage
The proportion of marriages that are
consanguineous has been reported to be 54%, of which
a high proportion are first-cousin marriages [9] . The
finding that consanguineous marriage is an important
predisposing factor for hemoglobinopathies [85] and
neonatal deaths associated with autosomal recessive
disorders has resulted in a recommendation to
implement premarital counseling and newborn
screening [86] . In a survey of public attitudes toward
consanguineous marriage, parents who have children
affected by genetic diseases reported that they did
not want their children to find spouses from within
the same family [11] .
Premarital medical counseling
Premarital and genetic counseling clinics are
currently available in Abu-Dhabi, Dubai, and Al-
Ain, the first having been established in 1989. These