CONSANGUINEOUS MARRIAGES AND THALASSEMIA MAJOR IN PAKISTAN: A CROSS-SECTIONAL STUDY ON AWARENESS AND PREVALENCE

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PUBLISHED DATE: - 29-07-2024

DOI: -

https://doi.org/10.37547/TAJMSPR/Volume06Issue07-07

PAGE NO.: - 49-61

CONSANGUINEOUS MARRIAGES AND
THALASSEMIA MAJOR IN PAKISTAN: A
CROSS-SECTIONAL STUDY ON AWARENESS
AND PREVALENCE

Areeba Aziz

Rai medical college Sargodha, Pakistan

Humna Tehreem

Rai medical college Sargodha, Pakistan

Rida Aslam

Rai medical college Sargodha, Pakistan

Waqar Alam khan

Rai medical college Sargodha, Pakistan

Muhammad Umer Javed

Rashid Latif Medical College Lahore, Pakistan

Mohammad Sikander Ali

Rashid Latif Medical College Lahore, Pakistan

Aqsa Riaz

Rai medical college Sargodha, Pakistan

Muhammad Nouman Tariq

Akhtar Saeed Medical and Dental College, Pakistan

Syed Shayan Gilani

Akhtar Saeed Medical and Dental College, Pakistan

Seneen Noor

The International Center of Medical Sciences Research (ICMSR), 5900 Balconies Drive#12581,

Austin TX, 78731 USA

The International Center of Medical Sciences Research (ICMSR), Islamabad Pakistan

RESEARCH ARTICLE

Open Access

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Elyeen Noor

The International Center of Medical Sciences Research (ICMSR), Islamabad Pakistan
The International Center of Medical Sciences Research (ICMSR), Office 5479 321-323 High

Road Chadwell Heath Essex United Kingdom Rm6 6ax, USA

INTRODUCTION

Thalassemia encompasses a spectrum of

autosomal recessive disorders characterized by

diminished hemoglobin production due to faulty
synthesis of alpha and beta chains, leading to

increased destruction of red blood cells (1).

Individuals with alpha thalassemia exhibit
insufficient alpha chain production, resulting in an

excess of beta globulin chains, while those with
beta thalassemia lack beta globulin chain synthesis,

leading to an excess of alpha chains (2). Globally,
thalassemia ranks as the second most prevalent

hemoglobinopathy following sickle cell disease (3).
Thalassemia major has emerged as a significant

public health concern, being identified as the most

prevalent genetic blood disorder globally by the

World Health Organization (WHO) (4). The burden
is substantial, with approximately 70,000 infants

born with beta Thalassemia major annually
worldwide, and an estimated 270 million

individuals carrying hemoglobinopathies (4). In
addressing these challenges, literature provides a

comprehensive overview of global thalassemia
epidemiology and discusses recent advancements

in prevention and management strategies. It also

explores the impact of consanguineous marriages
on genetic disorders, including thalassemia,

shedding light on the implications for clinical
genetics and public health (5,6).

Abstract

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The incidence of beta thalassemia major is notably

higher in tropical and sub-tropical regions,

particularly in Mediterranean countries, South East

Asia, the Middle East, and the Indian Subcontinent,
with reported higher carrier frequencies in specific

regions such as Cyprus, Sardinia, and South East
Asia (7). Notably, nearly 70% of families in the

present study reported having more than one child
with beta thalassemia major (8). In Pakistan,

thalassemia major stands as one of the most
prevalent genetic disorders, with over 5000 new

patients added to the affected population annually
(9). The prevalence is exacerbated by the deeply

ingrained social practice of cousin marriage, which
constitutes approximately 60% of marriages in

Pakistan and contributes significantly to
hereditary disorders (10).
Different studies shed light on the knowledge,

attitudes, and experiences of individuals

undergoing genetic counseling and prenatal
diagnosis in Pakistan, highlighting cultural factors

influencing decision-making regarding genetic
testing and family planning (11, 12).
Cousin marriage, defined as marriage between

individuals with an inbreeding coefficient equal to

or greater than 0.0156, substantially elevates the
risk of thalassemia major in offspring (13). Recent

studies have underscored additional social and
cultural factors, including low economic status,

lack of awareness, and intra-ethnic marriages, as
further contributors to the high frequency of

thalassemia in the Pakistani population (14,15).
This is corroborated by a study which discusses the

challenges encountered in managing beta-
thalassemia and emphasizes the need for

comprehensive care strategies to improve patient
outcomes (16).
Presently, two main treatments for thalassemia

major exist: symptomatic management and bone

marrow transplantation (1). However, there is no
definitive cure, and lifelong blood transfusions

constitute the primary form of treatment, imposing
significant financial and emotional burdens on

affected families and the healthcare system (1). The
exploration of thalassemia's psychosocial effects

on patients and their families underscores the

significance of comprehensive care strategies that
cater to both medical and psychosocial

requirements (17).
The primary aim of our study was to investigate the

correlation between cousin marriages and the
prevalence of beta thalassemia major, while the

secondary objective was to evaluate parental
knowledge of the disease and attitudes toward

prenatal diagnosis, particularly in Sargodha, where
social and caste-based marriages are prevalent.

METHODOLOGY
Study Design

This study adopts a descriptive cross-sectional

design.

Setting

The research is conducted among patients

diagnosed with thalassemia major, who are

attending the thalassemia blood center at Halal-e-

Ahmer Hospital in Sargodha.

Duration

Data collection spans from March 2022 to October

2022.

Sample Size

A total of 200 patients are included in the study.

The sample size is determined with a p-value of

0.05, resulting in a margin of error of 6.9%
(alpha=0.069) and a confidence level of 95%. The

sample size calculation is based on the formula S=

Z^2xPxQ/E^2, = (1.96)2x (0.5) x (0.5)/ (0.069)2
yielding a value of 200.

Exclusion Criterion

Patients with other hemoglobinopathies, such as

sickle cell disease and hereditary spherocytosis,

are excluded from the study.

Inclusion Criterion

The study includes patients diagnosed with

thalassemia major, as well as their parents.

Data Collection

Prior to the main data collection, a pilot study is

conducted to assess the reliability of the

questionnaire. The questionnaire covers various

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aspects including demographic information,
frequency of cousin marriages, awareness about

preconception genetic counseling, screening

methods, genetic modes of transmission, the
preventable nature of thalassemia major, and

opinions regarding future cousin marriages.
Anonymity and confidentiality of the participants

are strictly maintained throughout the data
collection process.

RESULTS

A survey was conducted to check the frequency of

Thalassemia major among males and females in

families who have had cousin marriages, their
awareness about the disease in the parents of the

patients and their point of view about Thalassemia
screening and abortion of Thalassaemic child.

Survey was conducted in thalassemia blood centre,
Halal-e-Ahmer hospital, Sargodha.

Social and Demographic Characteristics

The demographic characteristics of the study

participants showed a slight male predominance,

with 54% males and 46% females.
The age distribution of the participants ranged

from 2 to 21 years, with a mean age of 8.33. The
majority of the patients fell within the age group of

6-10 years, comprising 36% of the study
population. This age distribution highlights the

vulnerability of children in this age range to be
affected by Thalassemia major.

Table 1

: Table illustrates the age distribution of

study participants, presenting the frequency and

percentage distribution across various age
intervals ranging from 1 to 25 years. The table

highlights the proportion of participants within
each age group, providing insights into the age

demographics of individuals affected by
Thalassemia major in the study population.

Age interval

Frequency

Percentage %

1-5

66

33

6-10

72

36

11-15

48

24

16-20

10

5

21-25

4

2

Frequency of Thalassemia Major and Marital

Patterns

Furthermore, the survey demonstrated that 79% of

the patients were the result of cousin marriages,

emphasizing the influence of genetic factors in the

prevalence of Thalassemia. In addition, cousin

marriage was prevalent in 86% of the families
included in the study, underscoring the need for

increased awareness and genetic counseling within
these communities.

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Fig 1

: The bar graph illustrates the prevalence of

cousin marriages among patients with Thalassemia

major, with the x-axis representing the percentage
of marriages and the y-axis depicting the categories

of cousin marriage and non-cousin marriage.

Reasons for Cousin Marriages

When the parents of the patients were asked about

the reason for their marriage with cousins, 92%
gave the reason of traditional values, while in 3%

of cases, the marriage with cousins was by force
and 5% was because of other reasons.

These findings shed light on the complex societal

factors that contribute to the prevalence of cousin

marriages and the subsequent increased risk of
thalassemia major in Pakistan. The overwhelming

presence of traditional values as a reason for
cousin marriages reflects the deep-rooted cultural

norms and beliefs regarding marriage within the

same family. On the other hand, the concerning
revelation of forced marriages in a small

percentage of cases warrants urgent attention and
intervention to protect individuals from such

coercive practices.

0%

10%

20%

30%

40%

50%

60%

70%

80%

cousin marriages

non cousin marriages

79%

21%

Association of thalassemia major with cousin marraiges

Association of thalassemia major with cousin marriages

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Fig 2

: The stacked bar chart depicts the reasons

provided by parents of patients with Thalassemia

major for their marriage with cousins, with the x-
axis representing the percentage distribution and

the y-axis indicating the categories of traditional
values, other reasons, and marriages by force.

Awareness about Pre-Conception Genetic

Counseling and Screening

The survey results revealed significant gaps in

awareness regarding preconception genetic
counseling and screening for thalassemia. Only 7%

of the study participants were aware of the
availability of preconception genetic counseling

and screening, while a staggering 93% had no
information regarding these crucial interventions.
Furthermore, the survey highlighted the limited

understanding of the genetic mode of transmission

of thalassemia, as only 15% of the participants
knew about its genetic inheritance and prevalence

within families. This lack of awareness is
concerning, as it hinders the ability of individuals

to make informed decisions regarding family
planning and the risk of passing on thalassemia to

future generations.
Another pivotal finding was the knowledge

disparity among parents of thalassemic patients,
with 52% of them being aware that they were

carriers of thalassemia themselves, while others
did not undergo screening for it. This emphasizes

the urgent need for targeted education and

screening programs to identify carriers and
prevent the transmission of thalassemia within

families.
Inquiring about their perceptions of cousin

marriages after having a thalassemic child yielded
compelling insights. An overwhelming 97% of the

study participants discouraged cousin marriages
for their next generation, recognizing the

heightened risk of genetic disorders such as
thalassemia. This strong stance against cousin

marriages underscores the widespread recognition
of the associated health risks within the

community.
However, it is noteworthy that 3% of the

participants remained in favor of cousin marriages
in the future despite having a child affected by

thalassemia.

This

minority

perspective

underscores the complexity of societal attitudes

and beliefs surrounding cousin marriages,
reflecting the multifaceted nature of cultural norms

and individual decision-making.

Family History and Financial Burden

The survey data also provided crucial insights into

the financial burden and healthcare access faced by
families with thalassemic children. 35% of patients

had a positive extended family history of
Thalassemia major, indicating the hereditary

nature of the condition within families.

Additionally, 24% of families had experienced
deaths due to Thalassemia major, highlighting the

severe consequences of this disorder.

3%

5%

92%

0%

10%

20%

30%

40%

50%

60%

70%

80%

90%

100%

by force

others

traditional values

Reasons for cousin marriage

reason for cousin marriage

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In terms of financial implications, the survey

revealed that 34% of families had a total

expenditure per month ranging between Rs 4000

to 6000, while 31% incurred expenses in the range
of 2000-4000 rupees. These findings underscore

the significant economic strain experienced by a
majority of the families, with 27% having a

monthly expenditure between 6000-8000 rupees
and 8% facing costs exceeding 8000 rupees. The

disproportionate financial burden, especially for
those with limited resources, emphasizes the

urgent need for financial support and affordable
healthcare options.
Moreover, 55% of the surveyed families had to visit

the hospital for transfusions twice a month, and

30% visited at least once a month. This frequent
need for hospital visits demonstrates the ongoing

healthcare requirements and the necessity for
accessible and affordable healthcare services for

thalassemic patients and their families.

Fig 3

. The pie chart illustrates the frequency of

hospital visits per month among patients with

Thalassemia, with each segment representing a
different frequency category. The percentages

displayed in the chart correspond to the

distribution of patients based on the number of
visits per month, categorized as once (30%), twice

(55%), thrice (10%), and every week (5%).

30%

55%

10%

5%

Visits to thalassemia centre per month

once

twice

thrice

every week

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Fig 5

: The bar graph represents the distribution of

expenditure on treatment for Thalassemia

patients, with the y-axis indicating the amount of
money in Pakistani Rupees (PKR) and the x-axis

depicting the percentage distribution. Each bar
corresponds to a specific expenditure range, and

the height of each bar indicates the proportion of
patients with treatment expenditures falling within

that range.

Prevalence and Parental Perspectives on

Thalassemia Screening and Abortion

The study revealed that 87% of parents of children

with Thalassemia major expressed a desire not to

continue with the pregnancy if they were informed

that their child would have Thalassemia. This
sentiment reflects a significant majority of parents

who would opt against continuing a pregnancy in
the presence of this genetic disorder. Conversely,

13% of parents indicated a preference for keeping
the child despite the diagnosis of Thalassemia,

highlighting a minority perspective within the
study population.

DISCUSSION

Cancer imposes a significant burden globally,

affecting millions annually and resulting in

substantial healthcare costs and productivity loss
(18-27). Infectious diseases, on the other hand,

present ongoing threats (28-26), with outbreaks
like COVID-19 showcasing their potential to

overwhelm healthcare systems and disrupt
economies (37-45). The COVID-19 crisis has

already resulted in widespread economic
downturns, highlighting the vulnerability of

societies to health emergencies. In Pakistan, the
additional burden of thalassemia further strains

healthcare resources and compounds the
challenges faced by individuals and families.
Thalassemia major presents a significant genetic

burden in many populations, necessitating urgent

control measures to mitigate its impact.
Consanguineous marriages, particularly among

first cousins, significantly contribute to the
prevalence of genetic disorders such as

Thalassemia major (46). In our study, we observed
that 86% of patients' parents confirmed cousin

marriage as a prevalent custom within their
families, aligning with findings from previous

studies indicating high rates of consanguinity

among parents of thalassemic children (47-49).

31%

34%

27%

8%

0%

5%

10%

15%

20%

25%

30%

35%

40%

2000 to 4000

4000 to 6000

6000 to 8000

more than 8000

Expenditure on treatment

expenditure

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Consistent with previous research, our study found

a male predominance among Thalassemia major

patients

(50-52).

This

gender

disparity

underscores the importance of

targeted

interventions and genetic counseling to address

the higher susceptibility of males to the disorder.
Regarding awareness and knowledge about

Thalassemia major, our study revealed a
concerning lack of awareness among participants,

contrasting with studies conducted in other
regions where higher levels of knowledge were

reported (53-55). For example, a comparative
study conducted in a neighboring country reported

a significantly higher proportion of participants
with adequate knowledge regarding the genetic

mode of transmission of Thalassemia major,
highlighting disparities in educational efforts and

health literacy between populations (53)
The issue of abortion emerged as a sensitive topic

in our study, with a significant proportion of
parents expressing willingness to abort a

Thalassemic fetus, despite religious and emotional
considerations (50). However, a comparative study

conducted in a different cultural context reported
differing attitudes towards abortion in the context

of Thalassemia major diagnosis, suggesting
variations in cultural norms and ethical

considerations surrounding reproductive choices

across populations (13).
Furthermore, our study revealed a striking lack of

awareness about Thalassemia major among

parents prior to having an affected child, consistent
with findings from other studies (13). This

highlights the importance of proactive screening
programs and educational initiatives to equip

individuals with essential knowledge about genetic
disorders and their preventive measures.
In light of these findings, legislative measures such

as mandatory premarital thalassemia screening, as

proposed by the government of Pakistan, are
crucial for reducing the burden of Thalassemia

major (56). Additionally, community-based
initiatives and collaborations between government

agencies, healthcare providers, and non-
governmental organizations (NGOs) are essential

for implementing effective prevention and control

strategies, including genetic counseling and
awareness campaigns (57).

CONCLUSION

Overall, addressing the multifaceted challenges

associated with Thalassemia major requires a

comprehensive approach encompassing public
health policies, community engagement, and

education to minimize the impact of this genetic

disorder on affected individuals and their families.
Comparisons with findings from other studies

provide valuable insights into regional variations
and inform recommendations for tailored

interventions to address the specific needs of
diverse populations.

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