Hereditary diseases are preventable

by Victor Bulyzhenkov and Bernadette Modell

ereditary disorders are com- disease who survive to older age-

H mon, interact with infec-

tious and nutritional dis-
eases, can often be managed or
groups can be regarded as a built-in
" thermometer" to measure the
progress of primary health care
prevented by relatively simple ap- measures.
proaches, and deserve inclusion in Though the numbers of children
family planning and maternal and affected are relatively small com-
child health programmes. Common pared with infectious or nutritional
disorders of later life such as coro- conditions, hereditary diseases
nary heart disease, diabetes melli- cause life-long problems, and pre-
tus, cancer and mental illness also sent a disproportionate burden for
have important genetic compo- the patients, their families, and the
nents. The WHO Hereditary Diseases health care system, whatever its
Programme is concerned with de- stage of development may be. An
veloping community approaches ever WHO programmes of immuni- inherited disease can even emerge
and appropriate technology to pre- zation, diarrhoea management and rather suddenly in a progressive
vent and control the most common malaria control are making pro- country as a priority health prob-
of them. gress. As a direct result, more in- lem. This happened with thalassae-
More than two per cent of all in- fants with hereditary disabilities mia in Cyprus, Greece and Italy in
fants are born with severe heredi- are surviving and being diagnosed, the 1960s and the same is now hap-
tary disorders. But in many devel- and will then require ma~agement, pening in Bahrain, the Republic of
oping countries, the figure reaches as far as it is available. The propor- Maldives and Thailand. These facts
six per cent because of the greater tion of infants born with hereditary require new perceptions on the part
frequency of disorders related to of health planners.
maternal age (such as mental retar- It is too easy to suppose that, be-
dation due to Down's Syndrome), cause hereditary diseases are in-
and of inherited disorders of the born, very little can be done about
red blood cell (sickle cell disease, them, but this is not the case. Neo-
the thalassaemias and G6PD natal jaundice due to G6PD defi-
deficiency). ciency can be prevented by educat-
Infants with genetic diseases are ing mothers and health workers to
particularly vulnerable to infectious avoid factors that can precipitate it
and nutritional diseases. So when A parent with A parent with
thassalaemiatrait
(such as herbal medicines or keep-
the infant mortality is high, most ing infant clothes in mothballs) and,
die undiagnosed in early childhood, providing health workers are
creating the impression that heredi- trained to recognise it, it can usual-
tary disorders are not a significant ly be successfully treated simply by
health problem. For instance, in exposing the infants to sunlight.
Sub-Saharan Africa, between one Children with sickle cell disease can
and two per cent of all infants are be protected by teaching the par-
born with sickle cell disease, and Normal Thalassaemia trait Thalassaemia majo r ents to avoid extremes of tempera-
the vast majority die in their first ture and dehydration, and to seek
two years from anaemia or infec- rapid treatment for infections.
tions. In addition, about 20 per cent · If both parents carry thalassaemia Of course, many hereditary dis-
trait, their children may have thalas-
of male infants have glucose-6- saemia trait, or they may have com- eases are more intractable. Some
phosphate dehydrogenase (G6PD) pletely normal blood, or they may treatments are complex and expen-
deficiency, and probably one-tenth have thalassaemia major. sive; thalassaemia major for in-
of them die or are disabled as a re- stance requires monthly blood
sult of severe neonatal jaundice. In each pregnancy there is a one in transfusions and a daily infusion of
The result is that these two inherit- four (25 %) chance that their child will an iron-chelating drug (one which
ed diseases kill between two and have normal blood, a two in four promotes a suspension of iron sub-
three per cent of African infants, (50 %) chance that the child will have stances in the blood). Others, like
and contribute up to 20 per cent thalassaemia trait, and a one in four mental retardation due to Down's
of the infant mortality, without (25 %) chance that the child will have Syndrome, cannot be treated at all.
thalassaemia major.
attracting particular attention. But in some cases even these prob-
Infant mortality is falling wher- Photo WHO lems can be overcome. For exam-

20 WoRLD HEALTH, October 1988

ple, thalassaemia and sickle cell dis-
ease can be prevented through edu-
cation and carrier testing and infor-
mation, when prenatal diagnosis is
available.
Such diseases as thalassaemia,
sickle cell disease, cystic fibrosis
and phenylketonuria are transmit-
ted by symptomless carriers, who
inherited the "trait" from their
parents. In Africa and Asia, from
between one and 25 per cent of
most populations are carriers of
one of these disorders which, rather
surprisingly, serves as a constitu-
tional protection against malaria. If
a carrier and non-carrier marry,
some of their children are carriers
and some are not, but none have
the major disease. However, if two
carriers marry, on average one in
four of their children will inherit
the disorder from both parents, and
will have sickle cell disease or
thalassaemia major.
Very simple blood tests are suffi-
cient to identify carriers, so couples
who are carriers can be detected
and advised of their risk before
they start a family. We now know
that most people wish to know
these facts . Information on genetic
risk and ways of avoiding it must
be given according to the basic ethi- As health care improves, more infants Italy and Cyprus, and as a result
cal principles of medical genetics. with hereditary disabilities are surviv - the birth rate of affected infants has
These are : that the autonomy of ing to older age. They represent a fallen by about 70 per cent in
the individual or the couple must " thermometer" to measure the pro- Greece and 50 per cent in Italy, and
be respected; that they have gress of primary health care measures. is still falling fast in both countries.
the right to full information given Photo WHO/Zafar In Cyprus, progress has been even
in a way they can understand; more rapid: in 1986 no new affect-
and that confidentiality must be ed infants were born, as a result of
preserved. coming simpler, and will soon be the informed choice of couples at
When carriers are detected and suitable for use in developing risk. Simultaneously, an improved
informed according to these princi- countries. service has been built up for the
ples, they do not usually let the in- The strategy for community con- affected patients. This approach is
formation influence their choice of trol of hereditary diseases corn- now beginning to find support in
marriage partner, but it does influ- bines treatment and prevention in a parts of Asia.
ence their reproductive behaviour. unified approach. The objectives The strategy of hereditary dis-
So the important message to give to are to develop community educa- ease control is in the mainstream of
such couples is that to be a carrier is tion and involvement, appropriate WHO 's approach to health promo-
harmless to themselves, that they management, and prevention tion, since it depends on communi-
have a high chance of having through population screening and ty education and participation, and
healthy children, and that the birth counselling, preferably with access on the development of appropriate
of sick children can be avoided to prenatal diagnosis. The primary technology. Genetic technology is
through prenatal diagnosis with se- aim of the prevention component is developing very rapidly; in the
lective abortion of affected fetuses. to provide information and offer near future it will become possible
The techniques for prenatal diagno- parents a choice, but it is already to detect carriers for other inherit-
sis are steadily becoming more sim- clear that making these facilities · ed diseases such as cystic fibrosis.
ple-for instance, it can now be available often leads to a major re- · The programmes for the haemoglo-
done around nine weeks into the duction in new births of affected binopathies provide a model on
pregnancy by chorionic villus sam- infants. how to apply this knowledge- by
pling (CVS), allowing early termi- In the Mediterranean area, for putting information into the hands
nation of pregnancy when this is re- example, large-scale WHO thalassae- of people themselves, so that they
quested. Gene-mapping methods mia control programmes have start- can protect the health of their
for prenatal diagnosis are also be- ed over the last decade in Greece, families. •

W oRLD HEALTH, October 1988 21