Journal of Islamabad Medical & Dental College (JIMDC); 2012(2):77-80

Original Article
Prenatal Diagnosis of Thalassemia: Practices among
Parents of Thalassemia Major Patients
Maham Khan*, Naghmi Asif**, Naila Yaqoob ***, Tazeen Anwar****, and Khalid Hassan*****

*Medical Student, Islamabad Medical & Dental College, Islamabad

**Assistant Professo Pathology, Islamabad Medical & Dental College, Islamabad
***Assistant Prof, Dept of Pediatrics, Pakistan Institute of Medical Sciences, Islamabad
****Thalassemia Centre, Pakistan Institute of Medical Sciences, Islamabad
*****Prof and HOD Pathology, Islamabad Medical & Dental College, Islamabad

(Bahria University, Islamabad)

Abstract both parents are carriers of thalassemia, in every pregnancy

Objective: To evaluate the practices and attitudes of
parents of thalassemia major patients towards chorionic
villous sampling (CVS).
Patients & Methods: A cross-sectional study was
conducted at thalassemia centre at Pakistan Institute of
Medical Sciences in the months of July and August 2011.
Information regarding CVS was taken from parents of 100
registered β thalassemia major patients. Parents with no
history of pregnancy after index case, parents of α
thalassemia patient and those with other
haemoglobinopathies were excluded from study. Results
were entered and analyzed on SPSS version 17.
Results: After the index only 28 families underwent
prenatal diagnosis of thalassemia by CVS. There were 72
families in which CVS was not done. Out of these it was
not advised in 48 families and there were 24 families in
which it was advised but they did not opt for it. Various
reasons for this included health, religious and social issues
and also the risk of miscarriages. When they were asked
for CVS in future pregnancies, majority (67%) said yes but
33% were still not convinced to go for CVS in future.
Conclusion: Prenatal diagnosis of ß-thalassemia by
CVS is available in Pakistan for over a decade but its use
remains limited. The main reasons for the limited use were
that either they were not advised, or they did not opt for it
for cost, health, social and religious issues. There is a need
to impart awareness of the procedure particularly
addressing the above mentioned issues.
Key words: prenatal diagnosis, thalassemia screening,
chorionic villous sampling
Introduction
Thalassemia is the most common autosomal recessive single
gene disorder caused by different genetic lesions that
variably impair globin chain synthesis. About 3% of the
world population carries gene for beta-thalassemia.1 In
Pakistan, the carrier status is estimated around 5-7%.2 If
there is 25% chance for fetus to be diseased. It is a
preventable disease as proved by countries like Italy, Greece
and Cyprus. They were amongst the first to establish
successful national programs resulting in significant
reduction in the births of affected children. The main
prevention strategies comprise of targeted screening of
thalassemic families, extended family screening, screening
before marriage and prenatal diagnosis for thalassemia.
Over the last decade, techniques of first trimester fetal tissue
sampling have enabled diagnosis of many genetic disorders
to be made early in pregnancy thus allowing patients to have
the option of a pregnancy termination if the fetus is affected.
CVS and amniocentesis are prenatal diagnostic procedures
used to detect certain fetal genetic abnormalities.3 Prenatal
diagnoses of single gene disorders and chromosomal
abnormalities by CVS is now known and well established
procedure. Early diagnosis is important to prevent any
possible complications. CVS was used as a rapid means of
prenatal diagnosis of genetic disorders in 1980. In Pakistan
prenatal diagnosis for β thalassemia was introduced in
1994.4 The advantage of procedure is the diagnosis of
disease in early pregnancy (7-12 weeks) and thus early
termination of pregnancy is associated with lower morbidity
and decreased psychological trauma.
CVS is a technique for retrieval of fetal cells from
developing pregnancy during the first trimester.
Transcervical approach, was used initially and was first to
be started clinically in
Europe and Northern America.5,6 In 1984, the alternative
trans-abdominal approach was introduced.7 This technique,
offered benefits of lowered risk of infection and higher
patient acceptability. To-date all over the world multiple
studies have demonstrated high efficacy, safety and
acceptability of this procedure, and to be the gold standard
for prenatal diagnosis.
Prenatal diagnosis of thalassemia by CVS though a routine
procedure to be carried out in many countries, is still not a

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Journal of Islamabad Medical & Dental College (JIMDC); 2012(2):77-80

common practice in our country. Factors identified for this
under utilization are lack of awareness, poor access, delay in
seeking advice and high cost.
The aim of the current study was to determine the practices
and attitudes of parents of thalassemia major children
towards prenatal diagnosis of thalassemia by chorionic
villous sampling.
Patients & Methods
complication after getting CVS done. Parents who had
thalassemic children were counselled and advised for
termination of pregnancy and 4 parents agreed to it.
There were 24 cases in which CVS was advised but they
refused to get it done. Various reasons were mentioned by
parents as shown in Table 1.
Table 1. Demographic and Other Parameters in
Studied Population (n 100)

This was a cross-sectional questionnaire based descriptive Demographic features

study conducted at Thalassemia centre, Pakistan Institute of Males 67
Medical Sciences (PIMS), Islamabad in the months of July Females 33
and August 2011. Parents of one hundred registered patients Age
of β thalassemia major and with a history of at-least one Range 1-22
pregnancy after that thalassemic child were included in the Mean + SD 9.03 + 5.58
study. Patients with α thalassemia or any hemoglobinopathy Consanguinity 88%
were excluded. Diagnosis of β thalassemia major was done Province wise Distribution
on the basis of history and Hb electrophoresis. A properly Punjab 74%
designed questionnaire was devised to collect information KPK 24%
from parents (mother/ father or both). Parents were asked Baluchistan 02%
about consanguinity, their screening status, screening of
other children, if they had CVS advised or done, if advised CVS in Subsequent pregnancies (n=100)
and not done, what were the reasons. Results were entered CVS not done 72%
on SPSS version 17 and analyzed. CVS done 28%
Thalassmia Major 05 cases
Results Thalassemia Minor 09 cases
Among 100 thalassemic children, 67 were males and 33 Normal 14 cases
were females with male to female ratio of 2:1. Age range Complications of CVS Nil
was from 1-22 years with mean age of 9.03 + 5.58 SD years. Termination of Pregnancy 4 out of 5 cases
Eighty eight parents gave the history of consanguinity and Reasons for NOT Getting CVS done (n=72)
12 children were the product of non consanguineous Not advised 48 cases
marriage. Most of the patients belonged to Punjab (74%) High Cost 10 cases
followed by KPK (24%) and 2 patients belonged to Family issues 04 cases
Baluchistan Province. Health concerns/side effects 02 cases
Among 100 registered thalassemic children 73% parents Religious issues 06 cases
have been screened for thalassemia and 27% still not been Others 02 cases
screened. The reason being either registered recently or have Intention to get CVS done in future pregnancies
not gone for it despite being advised. Almost all the parents Yes 67%
gave history of screening for thalassemia after the diagnosis No 12%
of first thalassemic child. None of the parents gave history Don’t know 21%
of screening before marriage. Total no of children in these
100 families (including siblings) was 356. Among them 133 Parents were also asked if they will go for CVS in future
(37%) were diagnosed as thalassemia major. Out of 100 pregnancies. As shown in table 1, 67% said yes but 33%
were still not convinced to go for CVS in future.
families, 78 families had 1 thalassemic child, 11 had 2
thalassemic children and 11 had 3 thalassemic children. 177 Discussion
(49.7%) children were diagnosed as thalassemia minor and
46% children were normal. Thalassemia is the world's most common hereditary
After this index case CVS was done 28 families, once in 24 disorder. In Pakistan about 5000 homozygous thalassemic
families and twice in 4 families. 72 families did not go for children are born every year.2 Standard management of ß-
CVS. Out of these 72 families it was not advised in 48 thalassemia includes blood transfusion and iron chelating
families and there were 24 families in which it was advised therapy (to control the deleterious effects of progressive iron
but they did not opt for it. overload). Bone marrow transplant from HLA-identical
Result of CVS showed that among these 28 cases 5 were siblings in patients who have no evidence of iron overload
diagnosed as thalassemia major, 9 as thalassemia trait and results in disease-free survival and has significantly
14 were normal. None of the patients reported for any improved not only the survival but also the quality of life for

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Journal of Islamabad Medical & Dental College (JIMDC); 2012(2):77-80
thalassemic patients. However, in developing countries
where thalassemia is prevalent and health care resources are
limited, these forms of management are usually not easily
affordable. In Pakistan, for instance, patients who receive
regular transfusions are not able receive drugs for iron
chelation. Moreover, bone marrow transplantation is not
easily available and is quiet and expensive option for cure of
thalassemic children. So prevention is the most effective and
least expensive means of dealing with this problem.8
The main prevention strategies comprise of providing
appropriate information of disease and ways of prevention
not only to public but also to health professionals. This
prevention can be achieved by screening and counseling of
families at risk and screening of general population prior to
marriage.9 Premarital screening alone has tremendously
decreased the birth prevalence of β-thalassemia major.10
Prevention and control of thalassemia requires a well-
planned program of population screening and genetic
counselling. Prevention of new births of thalassemic
children can be implemented by prenatal diagnosis with
selective termination of pregnancy in case of homozygous
fetus.11 WHO guidelines on control of haemoglobinopathies
provide useful guidelines to develop a national programme
to control β-thalassemia in our country.12 Such programmes
involve identification of individuals carrying a gene for β-
thalassemia, counselling of these carriers and prenatal
diagnosis by CVS in situations where both parents are
carriers.13
Discouraging cousin marriage and family marriages is
another way of preventing disease. In our study
consanguinity has been reported in 88% couples. These
findings are comparable with another study done in Lahore
on awareness of thalassemia prevention by CVS.
Consanguinity was reported in 82% of their cases. In the
same study among thalassemic children 64% were males
and 36% were females, the findings comparable to our result
(67% males and 33% females). Similar, male preponderance
was reported by studies from Bangladesh and India.14,15 On
the contrary, a study from Karachi reported 57.5% females
being affected from thalassemia major.16 Prenatal diagnosis
and carrier detection are available in Pakistan, but their use
remains limited due to lack of public awareness and the cost
involved. In studied group of thalassemia major with a
thalassemic child, 72% of couples with one thalassemic
child did not go for CVS in subsequent pregnancies. In our
study only 72% women did not go for CVS because they
were either not advised or did not opt it themselves. The
reasons given by majority of them were a high cost,
religious issues, health and social issues. This is in
comparison to the study done by Fauzia et al as 39% of their
cases had gone for CVS.17 In this study though 88(76.5%)
knew about prenatal diagnosis and out of these only 39.1%
mothers had undergone this test during their pregnancies.
Possible reason according to them was high cost of CVS test
as most of their participant families belonged to lower socio-
79
economic group. Other contributory factors included
religious restrictions and social issues. Naseem et al.
reported that more than half of the families of the registered
thalassemic patients did not request for prenatal diagnosis.
Factors identified for this low utilization of services were
lack of awareness, poor access, delay in seeking advice and
high cost. Level of literacy has positive impact towards the
attitude of people with regards to preventive measures for
the disease, particularly to get oneself registered before 10th
week and going for CVS. In our study only 20/100 mothers
and 41/100 fathers have received education upto secondary
school level. In above mentioned study a significant
improvement in the use of PND was observed with
increasing education level of the mothers (p < 0.016).18
Similarly cost of the test is another impediment to CVS, as
we observed that fathers of ten children were jobless and 64
families had income less than 10,000/month.
Result of CVS showed that among these 28 cases, 5 (4/5
went for termination of pregnancy) were diagnosed as
thalassemia major and 9 as thalassemia minor. None of the
patients reported for any complication after getting CVS
done. In another study done for intrauterine diagnosis of
thalassemia major by CVS in 60 couples with thalassemia
trait, 28 (47%) were homozygous for beta-thalassemia,
8(13%) thalassemia minor and 24 (40%) cases were
normal.19 In the same study 4 (2%) out of 60 women had a
spontaneous fetal loss after the chorionic villous sampling.
In another study done in Iran on outcome of CVS in 300
women, 18% fetuses turned out to be of thalassemia major
and rate of spontaneous abortion was 1.4%. 20 In our study
however out of 28 pregnancies in which CVS was done,
none gave the history of any complications. In another study
done on geographic distribution and safety of CVS, out of
223 cases in which CVS was done 43% were Thalassemia
minor, 38% thalassemia major and 19% were normal and
rate of pregnancy loss after CVS was 2%.21 Syed S reported
pregnancy loss in 2/137 (1.5%) cases. Another study done
in Multan on DNA analysis of post CVS samples revealed
that 12(20%) out of sixty fetuses studied were homozygous
for thalassemia and all the couples opted for termination of
pregnancy.22 Post CVS fetal loss has been reported from
1.3-3.0 %.23, 24 In the above mentioned study fetal loss was
not observed in any case after the procedure, the findings
comparable with our results.
Conclusion
Prenatal diagnosis of ß-thalassemia by chorionic villous
sampling is a safe procedure being available in Pakistan for
over a decade but its use remains limited. In this study 2/3rd
of families did not go for CVS in subsequent pregnancy.
The main reasons being either they were not advised, cost,
health, social and religious issues. There is a need to impart
awareness of the procedure particularly addressing the
above mentioned issues. Both patients and doctors should be
made aware of Fatwa given for PND and subsequent
Journal of Islamabad Medical & Dental College (JIMDC); 2012(2):77-80
termination of pregnancy (if required) and safety of
procedure.
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