Genetic Counseling to Reduce the Level of Depression in Parents of
Children with Thalassemia Major
Henri Setiawan
1
, Annastasia Ediati
2
, and Tri Indah Winarni
3
1
Nursing Diploma Department of STIKes Muhammadiyah Ciamis, Master Program of Biomedical Science, Faculty of
Medicine Diponegoro University, Indonesia
2
Faculty of Psychology, Diponegoro University, Indonesia
3
Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Indonesia
Keywords: Thalassemia major, depression, genetic counselling.
Abstract: Thalassemia major is a chronic disease that the prevalence in Indonesia is increasing from 3,653 cases in
2006 to 5,501 cases in 2011. Besides having an impact on the patient’s health physically, thalassemia major
also gives psychological consequences, such as depression, on parents of patients with thalassemia major.
The aim of the study to investigate the impact of genetic counseling in reducing depression level on parents
of children with thalassemia major. This was a quasi-experimental study using a pretest-posttest group
design. In total, 44 parents met the inclusion criteria. The parents received genetic counselling to better
understand and cope with thalassemia major. Beck Depression Inventory II was used to measure parental
depression level before and after genetic counselling was conducted. The Wilcoxon test as well as paired-
sample t-test were applied for comparison analysis. The majority of participants (65.91%) reported lower
depression after they received the genetic counselling session (Meanpre=16.31; Meanpost=11.50; p<0.001).
The results highlight the positive impact of a genetic counselling on reducing depression on parents of
children with thalassemia major.
1 INTRODUCTION
Thalassemia is a chronic disease from parent to child
in an autosomal recessive inheritance (Price and
Wilson, 2006). Other studies revealed parents who
had children with thalassemia reported high levels of
anxiety, guilt feeling, and responsibility. Therefore,
the parents tend to supervise and nurture their
children excessively. The complexity of these
problems leads to high rates of depression in parents
and children with thalassemia (Jenerette and Valrie,
2010).
In Indonesia, thalassemia is a genetic disorder
which is the most common with the highest number
among the group of hemolytic anemia. The
prevalence of thalassemia carrier in Indonesia
reached about 3-8% in March 2009. Thalassemia
cases in Indonesia increased by 8.3% of the 3,653
cases recorded in 2006. As quoted from the official
website of Hasan Sadikin Hospital in Bandung,
Indonesian Thalassemia Foundation - Association of
the Parents of the Patients with Thalassemia (YTI-
POPTI) reported that the province of West Java is
the most widely recorded to have thalassemia
patients in 2011. From the 5,501 patients, 1,751
patients or approximately 35% originated from West
Java.
Thalassemia affects physically as well as
psychologically to the patients. The changes or
physical impairment that may emerge such as
dizziness, pale face, fatigue, insomnia, loss of
appetite, as well as the enlargement of lymph glands.
These conditions may impact the patient's emotional
state (Wong, et al., 2009). Patients often experience
psychosocial and emotional issues such as anxiety,
depression and social isolation
One of the efforts to reduce the psychological
burden of the parents of the children with
thalassemia major is to provide health services such
as genetic counseling (Stuart, 2009; Cabrera, et al.,
2010). Dini (2012) stated that the more information
about the disease was provided, especially in the
case of genetic disease, the more individuals had
certainty about their conditions (Fisher, et al., 1981;
Dini, 2012; Zongrum, 2014).
Genetic Counseling is a communication process
undertaken to address the issue of genetic diseases
affected in the family (Joao, 2008). The Process of
genetic counseling include present about definition
of the disease, ethiology, clinical features,
102
Setiawan, H., Ediati, A. and Winarni, T.
Genetic Counseling to Reduce the Level of Depression in Parents of Children with Thalassemia Major.
In Proceedings of the 2nd International Conference on Sports Science, Health and Physical Education (ICSSHPE 2017) - Volume 1, pages 102-106
ISBN: 978-989-758-317-9
Copyright © 2018 by SCITEPRESS – Science and Technology Publications, Lda. All rights reserved

calculation and recurrent risk, testing dan screening
in their family (Genetic Alliance, 2009).
Research on genetic counseling has been
conducted include screening tests and prevention in
various genetic diseases such as thalassemia (syed,
2011), but the psychological effects caused by
genetic counseling, researchers have not found. In
developed countries like the United States,
Australia, and the Netherlands, genetic counseling is
conducted as a part of the procedure to overcome the
psychological problems of the parents who have
children with genetic disorders, including
thalassemia (Rujito, 2010; Leinalaa, 2008). In
contrary, in Indonesia, studies on the intervention for
the provision of genetic counseling to the acceptance
of genetic disease are still lacking. Among the
limited reports available, Widayanti, et al. (2011)
conveyed that the awareness of the parents to
receive information about thalassemia disease were
low. This study is essential due to the rapid
development of genetic science in Indonesia so that
genetic counseling also needs to be developed.
2 METHODS
The study applied a quasi-experimental with pretest-
posttest group design. All participants received
genetic counseling. Evaluation on depression level
was conducted before and after the treatment was
given. The study protocol was approved by ethical
committee of General Ahmad Yani Health Science
College.
The study was conducted in the Thalassemia
Room, Ciamis Hospital from April 24 until July 18,
2016 with the entire population of parents who had
children with thalassemia major. Thalassemia major
screening was conducted using MCH (Mean
corpuscular Hemoglobin), MCV (mean corpuscular
volume) and MCHC (Mean corpuscular Hemoglobin
Concentration) examination (Longlouis et al., 2008).
Based on medical records data, 120 patients with
thalassemia major were identified. They had been
diagnosed by experienced pediatrician based on the
examination of MCH, MCV and MCHC in the
laboratory of Ciamis District Hospital. From 120
parents of children with thalassemia major, 44
patients met the following inclusion criteria: had
children diagnosed with thalassemia major whom
following treatment in thalassemia division of
Ciamis District Hospital, were able to write and
read, experience depression due to the disease
suffered by their children, and signed informed
consent to participate the study.
Genetic counseling was a process to help parents
of the children with thalassemia major to understand
and adapt to the medical and psychological effects,
family implications, and the genetic contribution to
the disease suffered by their children (Resta et al.,
2006). In the study, genetic counseling was given in
the following three sessions: pre-counseling,
preparation, and counseling sessions. In the pre-
counseling session, the researcher (HS) confirmed
the planned visit of participants, explained the
genetic counseling plan as well as provided
emotional support. In the preparation session, the
socio-economic data were collected and the medical
records and genetic problems were reviewed. In the
counseling session, the researcher conducted genetic
counseling in accordance to the modules developed
for the study.
Procedures of genetic counseling include:
a. Obtaining a three-generation genetic family
history (pedigree)
b. Assessing risk for thalassemia in family
members
c. Identifying risk factors impacting medical
management (e.g., family history of other
hemoglobin traits or diseases, ethnicity,
consanguinity)
d. Incorporating psychosocial information
impacting the family system and relationships
(e.g., location of residence, disclosure/
nondisclosure of diagnosis, reliable source of
emotional/social support)
e. Assisting patients in conveying information
about genetic risk to other family members
f. Providing informed consent, pre-, and post-
counseling for all genetic testing
Data in the form of Beck Depression Inventory II
(BDI II) questionnaires collected from respondents
before and after genetic counselling Conducted. The
Indonesian version of the BDI II was used to
measure participants depression as pretest and
posttest evaluation. The Wilcoxon Signed Ranked
Test was used to examine the differences in the level
of depression in parents of children with thalassemia
major before and after the genetic counseling was
given. Pearson’s Product Moment analysis was done
to determine the effects of the characteristics of
participants (age, educational level, occupation,
family income and the number of children with
thalassemia in the family) to the level of depression.
Genetic Counseling to Reduce the Level of Depression in Parents of Children with Thalassemia Major
103

3 RESULTS AND DISCUSSION
The participant’s characteristics described the
distribution of participants by age, educational level,
occupation, family income, and the number of
children suffered thalassemia major in one family.
These characteristics were presented in Table 1.
Table 1: The participant’s characteristics by age,
educational level, occupation, family income, and the
number of children suffered thalassemia major.
*) Education were classified into Low = Elementary
School to Junior High School, Medium = Senior High
School, dan High = College.
Based on the data presented in Table 1, the majority
of participants (63.64%) were <35 years old,
finished high school (47.73%), earned over Medium
Wage of income (81.82%), and had one child with
thalassemia (93.18%). Only three participants
(6.82%) had two or more children with thalassemia.
The number of participants who had occupation
were comparable to those who were unemployee.
The results of comparison analysis on the
depression level that were obtained before and after
genetic counseling were reported in Table 2.
Table 2: Depression level before and after the genetic
counselling.
Depression
Level
PreTest
PostTest
p
n
%
n
%
No depression
0
0.00
5
11.36
<0.001
Low
3
6.82
23
52.27
Medium
32
72.73
13
29.55
High
9
20.45
2
4.55
Deny
0
0.00
1
2.27
Total
44
100.00
44
100.00
Notes. Wilcoxon signed-rank test was used; significant
at p < 0.05.
Based on the data presented in Table 3, it can be
concluded that the majority of participants (65.91%)
experienced positive change which means the
depression level was lower after genetic counseling
was given (Meanpre = 16.31; Meanpost = 11.50; p <
0.001).
Based on the results of statistical analysis, the
characteristics of participants such as age,
educational level, occupation, family income and the
number of children with thalassemia did not reveal
significant correlation to depression levels in parents
of children with thalassemia major either before or
after having genetic counseling.
3.1 Discussion
The study aims to investigate the impact of genetic
counseling in reducing depression level on parents
of children with thalassemia major. Before having
genetic counseling, the majority of participants
reported medium and high levels of depression.
However, after having genetic counseling, the
majority participants reported a low level of
depression and even five participants reported no
depression. Overall, the majority of participants
reported positive changes indicating a reduced level
of depression. The findings suggest the impact of
disease education and emotional supports, which
were given during the genetic counseling sessions,
in reducing the depression levels of parents of
children with thalassemia major.
The results of this study were different from the
previous studies. Wilhelm et al. (2009) stated that
genetic counseling did not give the psychological
impact such as decreasing the level of anxiety,
decreasing the level of depression, improving coping
mechanisms, as well as increasing the adaptation
process. Although participants received detailed
information regarding genetic disease which cause
chronic condition in the affected family member, the
given genetic counseling did not bring psychological
impact in short term or long term period because the
social environment predominantly influence
depression (Braithwaite et al., 2004; Davies et al.,
2007).
Findings from the study highlight the need to
implement genetic counseling in the healthcare in
Indonesia, particularly those which offer care for
patients with genetic disease like thalassemia. Ariani
(2010) and Rujito and Anwar (2010) mentioned that
Despite the increasing study on genetic counseling
and its benefits, the genetic counseling was mostly
Characteristics
n
%
Age
< 35 years old
28
63.64
≥ 35 years old
16
36.36
Education*)
Low
11
25.00
Medium
21
47.73
High
12
27.27
Occupation
Unemployee
22
50.00
Have an
occupation
22
50.00
Family Income
Under Minimum
Wage
8
18.18
Over Minimum
Wage
36
81.82
The number of
children suffered
thalassemia
major in family
1 child
41
93.18
> 2 children
3
6.82
ICSSHPE 2017 - 2nd International Conference on Sports Science, Health and Physical Education
104

available in some hospitals located in the big cities
of Indonesia. In the district hospitals, the majority of
health care workers were not familiar with genetic
counseling. In addition, the lack of knowledge or
information on genetic diseases among lay people as
well as health practitioners hindered the process of
genetic counseling. As a consequence, many health
practitioners were not confident in giving a genetic
counseling, especially on the recurrent risk to the
next descendant (Gaye et al., 2006; Metcalfe et al.,
2008).
The other challenge is how to influence the
policy makers to have more concern on the
implementation of genetic counseling in health
services of genetic disease in Indonesia. Currently,
Faculty of Medicine, Diponegoro University is the
only institution in Indonesia that offers formal
education to become a genetic counselor. Therefore,
a policy from Indonesian government to regulate the
profession of Genetic Counselors and Genetic
Counseling Services are necessary (Ariani, 2010;
Rujito and Anwar, 2010).
The study was hindered by several limitations.
The criteria of participants from social, cultural and
religious aspects tend to have homogeneous
background (Bonelli et al., 2012). As the study only
measured a short-term impact of genetic counseling
on parental depression, future studies need to
examine the long-term effects of genetic counseling
on the parental depression level.
4 CONCLUSIONS
Having a child with genetic disease like thalassemia
major can be stressful for parents and for a longtime,
it may lead to depression. Genetic counseling is
hardly available in the health centers in Indonesia.
Education about the disease and providing emotional
support can facilitate better disease acceptance. The
study confirmed the pivotal role of genetic
counseling in reducing parental level of depression
in the case of thalassemia major. Unfortunately,
genetic counselor or genetic counseling is not
available in all hospitals in Indonesia. Considering
the increasing number of genetic disease reported in
Indonesia, it is now important to have genetic
counseling as well as genetic counselor available in
the hospitals. Future studies on genetic counseling
and the psychosocial impact of having genetic
disease in the families should be encouraged.
ACKNOWLEDGEMENTS
The researcher would like to thank the Ministry of
Research, Technology, and Higher Education of
Republic of Indonesia which has provided
Scholarship for Postgraduate Education in Domestic
(BPPDN), Mrs. Dini Andini and Mrs. Euis Ninda as
the nurses in the thalassemia room of Ciamis District
Hospital, Indonesian Thalassemia Foundation -
Association of the Parents of the Patients with
Thalassemia (YTI-POPTI) of Ciamis District, and
all participants in the study.
REFERENCES
Ariani, Yulia. 2010. Konseling Genetik: Antara
Kebutuhan dan Keterbatasan. Majalah Kedokteran
Indonesia, 60, p.391-392.
Bonelli, Raphael, Rachel, E., Dew, Harold G. Koenig,
David, H. Rosmarin, & Sasan, Vasegh. 2012. Religious
and spiritual factors in depression: review and
integration of the research. Depression Research and
Treatment, p.962860. doi: 10.1155/2012/962860.
Braithwaite, Dejana et al. 2004. Psychological Impact of
Genetic Counseling for Familial Cancer: A Systematic
Review and Meta-analysis. Journal of The National
Cancer Institute, 96, p.122-133.
Cabrera, E., Blanco, Yague, C., Zabalegui, A. 2010. The
Impact of Genetic Counseling on Knowledge and
Emotional Responses in Spanish Population With
Family History of Breast Cancer. Patient Educ Couns.
78, p.382-8, doi: 10.1016/j.pec.2009.10.032.
Davies, Linda et al. 2007. The Emotional Effects of
Genetic Diseases: Implication for Clinical Genetics.
American Journal of Medical Genetics Part 143, p.
2651-2661.
Fisher, L., Rowley, PT., Lipkin, M. 1981. Genetic
Counseling for β-Thalasemia Trait following health
screening in a Health Maintenance Organization;
Comparison of Programmed and Conventional
Counselling. American Journal of Human Genetic, 33
p.987-994.
Gaye, AT., Cetin, SH., Demhran, Huriye, & Akdag,
Beyza. 2006. Nurse’s Professed knowledge of Genetics
and Genetic Counseling. Tohoku J. Exp. Med. 210,
p.321-332.
Genetic Alliance. 2008. The New York-Mid-Atlantic
Consortium for Genetic and Newborn Screening
Services. Understanding Genetics: A New York, Mid-
Atlantic Guide for Patients and Health Professionals.
Washington (DC): Genetic Alliance;
Jenerette, C.M. & Valrie, C.R. 2010. The Influence of
Maternal Behaviors During Childhood on Self Efficacy
in Individuals with Sickle Cell Disease. Journal of
Family Nursing, 16, p.442-434.
Kepala Bagian Hubungan Masyarakat Rumah Sakit Hasan
Sadikin Bandung. 2012. Layanan Penderita
Genetic Counseling to Reduce the Level of Depression in Parents of Children with Thalassemia Major
105

Thalasemia. www.rshs.or.id/Jawa
Barat/Ranking/1/Penderita/Thalasemia.htm diambil
pada tanggal 4 Oktober 2014. Bandung: Rumah Sakit
dr. Hasan Sadikin.
Khairul, Amin Syed. 2011. Prevention of Thalassaemia by
Genetic Counseling. AKMMC J 2011; 2(2): 26-28.
DOI: http://dx.doi.org/10.3329/akmmcj.v2i2.8172.
Langlouis, Silvy et all. 2008. Carrier Screening for
Thalassemia and Hemoglobinopathies in Canada. Joint
Sogc–Ccmg Clinical Practice Guideline; Canada.
Leinaala, Fukino Chiyome. 2008. Handbook:
Thalassemias and Other Hemoglobinopathies Protocol
Hawai‘i. The Hawai‘i State Department of Health
Family Health Services Division Children with Special
Health Needs Branch, Genetics Program.
Metcalfe, SA., Aitken, M., Gaff CL. 2008. The
Importance of Program Evaluation: How can it be
Applied to Diverse Genetics Education Settings?.
Journal of Genetic Counseling, 17, p.170-179. doi:
10.1007/s10897-007-9138-8.
Pina Neto, Joao M. 2008. Genetic counseling. Jornal de
Pediatria (4 Suppl): S20-26. doi:10.2223/JPED.1782
Price, S.A., Wilson, L.M. 2006. Patofisiologi:
Patofisiologi: Konsep Klinis Proses-proses penyakit.
(Brahm U. Pendit, Furiawati Hartanto, Pita Wulansari
& Dewi Asih Mahanani, penerjemah). Jakarta: EGC.
Rahmaniah, Dini. 2012. Pengaruh Psikoedukasi terhadap
Kecemasan dan Koping Orang Tua dalam Merawat
Anak dengan Thalasemia Mayor di RSUD Tangerang
Banten (Tesis). FK UI, Jakarta.
Resta, R., et al. 2006. A New Definition of Genetic
Counseling; NSGC Task Force Report. Journal of
Genetic Counseling, Vol. 15, No. 2. doi:
10.1007/s10897-005-9014-3
Rujito, Lantip, Anwar, Ghazali Paulus. 2010. Menggagas
Pengembangan Layanan Konseling Genetik di Unit
Layanan Kesehatan: Sebuah Kajian Awal. Majalah
Kedokteran Indonesia, 60, p.426-430.
Rujito, Lantip. 2010. Konseling Genetik, Strategi
mengontrol Penyakit Genetik di Indonesia. Mandala of
Health, 4 p.53-59.
Stuart, G.W. 2009. Principles and Practice of Psychiatric
Nursing. 9th ed.: Morby inc., elseviere aviliate.
Wasis. 2008. Pedoman Riset Praktis untuk profesi
Perawat. Jakarta; EGC.
Widayanti, CG., Ediati, A., Tamam, M., Faradz, SM., &
Sistermans, EA. 2011. Feasibility of Preconception
Screening for Thalasemia in Indonesia: Exploring The
Opinion of Javanese Mother. Ethnicity and Health, 16
p.483-499.
Wilhelm, Kay et al. 2009. Issues Concerning Feedback
About Genetic Testing and Risk of Depression. The
British Journal of Psychiatry, 194, p.404 – 410, doi:
10.1192/bjp.bp.107.047514
Wong, D.L., Hockenberry, M. Wilson, D.,Winkelstein,
M.L., & Schwartz, P. 2009. Buku Ajar Keperawatan
Pediatrik edisi 6 Volume 1 (Andry Hartono, Sari
Kurnianingsih, & Setiawan, penerjemah). Jakarta:
EGC
Zongrum, Onuma et all. 2014. Preliminary study on
Thalasemia Screening and Genetic Counsellingective
Hmong People in Saraburi Province, Thailand. Hmong
Studies Journal 8, p.1-19.
ICSSHPE 2017 - 2nd International Conference on Sports Science, Health and Physical Education
106