ABSTRACT 2 Thalassaemia has an autosomal recessive inheritance.

ABSTRACT

 

Objective: To determine the level of
awareness about thalassaemia among people of Punjab Pakistan.

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Methods: This (cross sectional) study was
conducted among people in different cities of Punjab-Pakistan. Information was
collected on a questionnaire consisting of all the necessary information
regarding thalassemia. Questions regarding awareness of thalassemia, types of  thalassemia, Pre-marriage screening test, mode
of transmission of disease, prevention and treatment were asked. Finally the
questionnaires from different people were analyzed and the result was
interpreted. The data was analyzed by SPSS version 16.

Results: Sixty percent people were unaware
about the disease, 25% had a little knowledge about the disease and only 15%
knew about Thalassemia and its complications.

Conclusion : From this survey we conclude that the awareness of people on
thalassemia is negligible.

Key Words : Thalassaemia, Awareness, People

 

INTRODUCTION

Thalassaemia is a hereditary haemoglobinopathy resulting
from the absence or reduced synthesis of either alpha or beta globin chain. Normal
hemoglobin, also called hemoglobin A, has four protein chains—two alpha globin
and two beta globin.
1 Depending upon the globin chain involvement, thalassaemia is categorized into
Alpha-thalassaemia and Beta thalassaemia. .Four genes (two from
each parent) are needed to make enough alpha globin protein chains. Alpha
thalassemia trait occurs if one or two of the four genes are missing. If more
than two genes are missing, moderate to severe anemia occurs.The most severe
form of alpha thalassemia is called alpha thalassemia major or hydrops fetalis.
Babies who have this disorder usually die before or shortly after birth.Two
genes (one from each parent) are needed to make enough beta globin protein
chains. Beta thalassemia occurs if one or both genes are altered. The severity of beta thalassemia
depends on how much one or both genes are affected. If both genes are affected,
the result is moderate to severe anemia. 2 Thalassaemia has an autosomal
recessive inheritance. Individuals suffering from beta-thalassaemia major are homozygous
while beta-thalassaemia minor (trait) are heterozygous and are asymptomatic
with mild anemia.2,3 Among the inherited disorders, thalassaemia is the most
common inherited diseases in Pakistan.4 Beta-thalassaemia major is more common
in South China Mediterranean, Arab countries, South Asia, Africa and Iran.5 The
highest carrier frequency is reported in Cyprus (14%), Sardinia (10.3%), and Southeast
Asia (1-9%)6. Carrier parents (thalassaemia minor) have a 25% risk of producing
thalassemia major child in every pregnancy. The carrier status of parents can
be identified through tests, like blood C/P, Hb electrophoresis and genetic
analysis.7,8 In Pakistan the gene frequency of ? thalassemia is 5-8% and is
present in all ethnic groups. It is estimated that there are approximately 9
million carriers of ?-thalassaemia, producing more than 5000 births of transfusion-dependent
thalassemia (TDT) every year in Pakistan.8-12 Presently Pakistan has 100,000 estimated
cases of thalassaemia, which makes up for almost 5% of total cases in world.13
These figures are increasing because of the lack of awareness and insufficient
education campaigns.14 It has been noticed that most mothers with thalassaemia
trait do not know about their carrier status and give birth to a thalassaemia
major child.11-15 Beta-thalassemia major patients require regular blood transfusions
and iron chelation for survival The permanent cure of this illness is only
possible with bone marrow transplantation or gene therapy.16,17 Thalassaemia is
a serious disease with many life threatening complications in addition to
psychosocial and financial problems. Increasing incidence, inadequate
management and failure of preventive attempts are primarily due to lack of
knowledge and due to lack of inadequate awareness among both professionals and
public at large.18 Public education programs for patients and their families
about thalassaemia and proper communication of health staff and doctors with
them is very effective to reduce the frequency of this disease.19-22 The
prevalence of disease is more in rural areas signifying the lack of education
and awareness about the disease and its prevention.23The low literacy rate in
Pakistan is the main obstacles in improving the level of awareness which has
been supported in various studies.20,23,24 The only way to prevent the disease
and reduce the mortality is by educating the general Population 25.For this
reason in this present study, awareness among general population regarding the disease
was evaluated.

 

 

SUBJECTS
AND METHODS

 

In this cross sectional study data
was collected from 130 people of different cities of Punjab-Pakistan. A structured
questionnaire was used in this study for collection of data, including
information of martial status. Questionnaire also contained different questions
related to thalassaemia. The purpose of using this questionnaire was to get detailed
information about the level of awareness among the parents. It contained eight
questions related to knowledge regarding thalassemia gene, transfer of gene,
detection during pregnancy, detection before marriage, permanent treatment,
transmission of illness through food, medicine or infection, treatment by blood
transfusion and role of iron containing food. Level of awareness was labelled as
“unaware” when the study subjects answered 0-2 questions correctly, “limited
knowledge” was labelled when study subjects correctly answered 3-5 questions
whereas “well aware” was labelled those study subjects who answered 6-8
questions correctly.

 

RESULTS

Out of 134 people 69% were
illiterate and the occupation of 70% was in rural areas (Table 1). Only 35%
parents knew about their gene career status.

Table 1: Frequency distribution of socio-

demographic variables (n=134)

Variables

No

Percentage

 

Awareness

 

Aware

97

 

Unaware

36

 

 

Martial
Status

 

Married

39

 

Unmarried

94

 

 

Knowledge about pre- marital
screening and permanent cure of thalassaemia was known to 39%, 29% and 25%
respectively (Table 2). About 60% of the people were unaware about the basic
things regarding thalassaemia disease, 25% had a little knowledge and only 15%
knew almost everything about basics of thalassaemia disease (Table 3).

 

Table 2: Response of questions regarding

thalassaemia awareness

Questions

Yes

No

 

No(%)

No
(%)

 

 

 

 

 

 

 

 

 

Do you know about screening test
for thalassemia gene detection before marriage?

43(29)

107
(71)

Is there any permanent treatment
of thalassemia?

38(25)

112 (75)

Do you have thalassemia gene?

53 (35)

97
(67)

 

 

 

 

 

 

 

Table 3:Level of awareness among people

with Thalassemia major

Level
of awareness

No(%)

Unaware

90(60)

Limited
knowledge

37(25)

Well
aware

23(15)

 

 

 

Discussion

Majority (60%) of the people did not
know anything about thalassaemia. Results are comparable to the study conducted
in Karachi 2008 and in Turkey 2014.25,26 The reason for inadequate awareness of
parents is the mainly illiteracy (69%) in our study compared to 57% in Karachi
and 67% in Turkey. Most of the parents belonged to rural area (70%) which is very
high as compared to 34% in Karachi. Another study conducted by Fouzia Ishaq et
al (2012) showed illiteracy 32%, 7% highly educated, 45% knew that thalassaemia
is a hereditary disease while in present study 35% were aware of the disease.
27 Pre-marital screening was known only by 29% in present study, which is quite
opposite to the study which showed 84% awareness.27 Study conducted by Safila
Naveed et al (2014) revealed that only 22% of people have a good knowledge of
thalassaemia.28 The current study results also correlate with other studies
which showed lack of knowledge, practice of pre-marital screenings, illiteracy
and ignorance were the main reasons for the prevalence of the disease.29-31This
study also highlights some false beliefs like blood transfusion is the only treatment
for this disease. These misconceptions are a source of unnecessary anxiety for
the family. Thalassaemia is controlled successfully in many countries like
Iran, Greece, Italy and Cyprus by educational campaigns and raising awareness
about the disease and highlighting its preventive measures to get rid of it.31 Our
country needs similar preventive measures employing educational institutions, masjids/madarsas,
print and electroinc media and through seminars, symposia and workshops .
Public health messages should be spread to clear the misconceptions and promote
the screening of carriers and prenatal diagnosis that will eventually lead to a
reduction in thalassemia births and will ultimately eradicate this fatal
disease.

 

Conclusion

1.People lack adequate knowledge
about thalassaemia.

2.It is the responsibility of
government, health professionals and society to support and encourage preventive
programs, in order to reduce the burden of this disease in Pakistan.

 

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