Reproductive behaviour of mothers of children with beta-thalassaemia major.

Abstract

Thalassaemia is the most common monogenic autosomal hereditary disease worldwide. This questionnaire-based cross-sectional study looked at the reproductive behaviour of 156 mothers of children affected with beta-thalassaemia major (Cooley anaemia) in Fars province, southern Islamic Republic of Iran. Regardless of the number of affected children, the parents of children with Cooley anaemia had an average of 3 unaffected children, the same as the average for the provincial population. The findings indicate that reproductive compensation occurs in families with a child with Cooley anaemia in this province. Genetic counselling, either before marriage or after the birth of the first affected child, had a significant effect on lowering the number of children born.

Full text

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EMHJ  •  Vol. 18  No. 3  •  2012
Eastern Mediterranean Health Journal
La Revue de Santé de la Méditerranée orientale
246
Reproductive behaviour of mothers of children with
beta-thalassaemia major
F. Habibzadeh,1 M. Yadollahie,1 M. Roshanipoor 1 and M. Haghshenas 2
ABSTRACT Thalassaemia is the most common monogenic autosomal hereditary disease worldwide. This
questionnaire-based cross-sectional study looked at the reproductive behaviour of 156 mothers of children
affected with beta-thalassaemia major (Cooley anaemia) in Fars province, southern Islamic Republic of Iran.
Regardless of the number of affected children, the parents of children with Cooley anaemia had an average of 3
unaffected children, the same as the average for the provincial population. The findings indicate that reproductive
compensation occurs in families with a child with Cooley anaemia in this province. Genetic counselling, either
before marriage or after the birth of the first affected child, had a significant effect on lowering the number of
children born.
1Medical Education and Research Centre, National Iranian Oil Company Health Organization, Shiraz, Islamic Republic of Iran (Correspondence to
F. Habibzadeh: farrokh.habibzadeh@gmail.com).
2Haematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Islamic Republic of Iran.
Received: 04/12/07; accepted: 24/03/08
ىبركلا اتيب-ةيميسلاثلاب ينباصلما لافطلأا تاهملأ بياجنلإا كولسلا
سانش قح روصنم ،روب ينَشوُرانيم ،يهللا دي ةبوبمح ،ةداز بيبح خرف
زكترت ةضرعتسم ةسارد نوثحابلا ىرجأ دقو .لماعلا في ًاراشتنا ةيدسلجا تانيلجاب ةلقتنلما ةيثارولا ضارملأا رثكأ نم ةيميسلاثلا دعت :ةـصلالخا
ناريإ ةيروهجم بونج سراف ةيلاو في ىبركلا اتيب-ةيميسلاثلاب ينباصلما لافطلأا تاهَّمأ نم ًاّمأ 156 ىدل بياجنلإا كولسلا في رظنلل نايبتسا لىع
يرغ لافطأ ةثلاث طسوتلما في ميهدل ليوك مد رقفب ينباصلما لافطلأا تاهمأو ءابآ نإف ،ينباصلما لافطلأا ددع نع رظنلا ِّ ضغب هنأ َ َّ ينبتو .ةيملاسلإا
ًءاوس ،نيدولولما لافطلأا ددع ضيفتخ في ًاماه ًارود ةيثارولا ةروشلما ميدقتل نأ حضتا ماك .ةيلاولا ناكس ىدل لباقلما طسوتملل لثامم وهو ،ينباصم
لفط ايهدل يتلا سرلأا في بياجنلإا ضيوعتلا ثودح لىإ ثحبلا جئاتن يرشتو .باصم لفط لوأ ةدلاو دعب وأ جاوزلا لبق ةيثارولا ةروشلما ميدقت مت
.ةيلاولا هذه في ليوك مد رقفب باصم
Comportement en matière de procréation des mères d'enfants atteints de β-thalassémie majeure
RÉSUMÉ La thalassémie est la maladie héréditaire monogénique à transmission autosomique la plus fréquente
dans le monde. La présente étude transversale reposant sur un questionnaire a évalué le comportement en
matière de procréation de 156 mères d'enfants affectés par une β-thalassémie majeure (aussi appelée anémie de
Cooley) dans la province de Fars (sud de la République islamique d'Iran). Sans tenir compte du nombre d'enfants
affectés, les parents d'enfants atteints d'une anémie de Cooley avaient en moyenne trois enfants non touchés par
la maladie, c'est-à-dire le même nombre que dans la population de la province. Les résultats indiquent qu'une
compensation reproductrice se produit dans les familles ayant un enfant atteint de l'anémie de Cooley dans cette
province. Les conseils génétiques, soit avant le mariage soit après la naissance du premier enfant affecté, ont eu
un effet significatif sur la réduction du nombre d'enfants nés.

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شرع نماثلا دلجلما
ثلاثلا ددعلا

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Introduction
Thalassaemia is an inherited blood
disease that affects tens of thousands
of people worldwide. It is the most com-
mon monogenic autosomal hereditary
disease worldwide [1]. Hypothetically,
this haemoglobinopathy serves a use-
ful purpose in populations as there is
evidence that it is protective against
fatal falciparum malaria. Nowadays,
however, with eradication of malaria
from many countries, thalassaemia has
become an important socioeconomic
burden for these countries [2]. The
cost of medical services provided to
almost 25 000 patients with thalassae-
mia major in the Islamic Republic of
Iran exceeds US$ 40 million annually.
The distribution of the gene for thalas-
saemia, however, is not uniform, with
the highest prevalence in the Mediter-
ranean area, North and West Africa, the
Middle East, the Indian subcontinent,
southern Far East and south-eastern
Asia: the so-called “thalassaemia belt”
[1].
In view of the considerable problems
facing the families of these children, it
would be expected that giving birth to
a child with thalassaemia would have
an impact on the subsequent repro-
ductive behaviour of a couple. Several
studies have been conducted on this
issue; some have indicated a reproduc-
tive compensation in families with a
child with Cooley anaemia [3–5], while
another concluded that there was no
reproductive compensation [6]. Since
this behaviour presumably depends
to a great extent on the cultural back-
grounds of the families, and in view of
the existing controversy, we conducted
this research to study the reproductive
behaviour of mothers of children with
beta-thalassaemia major in Fars prov-
ince, southern Islamic Republic of Iran.
Methods
Fars province has almost 2500 patients
with beta-thalassaemia major [2].
Many of these patients receive medical
services in Shiraz, the Capital of Fars
province. Thalassaemia patients receive
a blood transfusion every 3 to 6 weeks.
In a questionnaire-based, cross-
sectional study over 1 week in July 2005,
the mothers of all patients who attended
the Cooley anaemia centre of Dastgheib
hospital, affiliated to Shiraz University
of Medical Sciences, were interviewed
either by a trained registered nurse or a
general practitioner. Both interviewers
were trained for the job at the Medical
Education and Research Centre of the
National Iranian Oil Company Health
Organization. The objectives of the
study were described to participants
and their consent was taken before en-
rolment into the study. Each mother
was asked whether she had had genetic
counselling before marriage or after the
birth of her first affected child; about the
couple’s desire to have more children
and the age, sex and the health status of
her children in order of birth.
Data were coded and analysed
by Epi-Info, version 6, and SPSS, ver-
sion 14.0 for Windows. Statistics were
presented as mean and standard de-
viation (SD). The Mann–Whitney
U-test was used to compare the mean
number of children between 2 groups,
and Kruskal–Wallis 1-way analysis of
variance (ANOVA) used for compari-
sons among 3 or more groups. P < 0.05
was considered statistically significant.
Results
Over the study period of 1 week, 164
mothers of children with beta-thalassae-
mia major attended the anaemia centre;
156 consented to take part in the study
and were interviewed. The data for all
these participants were complete and
analysed. The remaining 8 mothers
refused to participate in this study for
personal reasons.
These 156 mothers had a mean total
number of children of 4.34 (SD 2.24)
(Table 1). Each mother had a mean of
1.45 (SD 0.81) children with Cooley
anaemia, dead or alive. This translates
into a mean number of unaffected chil-
dren of 2.93 (SD 2.04) (Figure 1).
Only 7 (4.5%) mothers had re-
ceived genetic counselling before mar-
riage (Table 2). Those who had had
premarital genetic counselling had a
significantly lower mean total num-
ber of children [2.14 (SD 1.07)] than
those who had not [4.81 (SD 2.28)]
(P = 0.0017; Mann–Whitney U-test).
There were 36 mothers (23.1%) who
had sought genetic counselling after
they gave birth to their 1st child with
thalassaemia. The mean number of
children of mothers who had sought
genetic counselling [3.39 (SD 1.68)]
was also significantly lower than that of
those who had not [(4.81 (SD 2.28)]
(P = 0.0013; Mann–Whitney U-test)
(Table 2).
Those women whose 1st or 2nd
child had Cooley anaemia (n = 82)
Table 1 Effect of birth of a child with beta-thalassaemia major on the total number of children in each family
ParameterNo. of children with beta-thalassaemia major (dead or alive)
12
107 35
3.69 (2.01) 5.86 (2.00)
3
10
4
2Number of families
Mean (SD) number of childrena
5.20 (1.55) 7.50 (2.12)
aMeans were significantly different (P < 0.001; Kruskal-Wallis 1-way ANOVA).
SD = standard deviation.

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EMHJ  •  Vol. 18  No. 3  •  2012
Eastern Mediterranean Health Journal
La Revue de Santé de la Méditerranée orientale
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had a mean total number of 3.12 (SD
1.88) children; for those whose first
affected child was either the 3rd or
4th child (n = 38), the value was 4.53
(SD 1.12); and for those whose first
affected child was the 5th child or later
(n = 36), the mean was 7.08 (SD 1.68)
(P < 0.0001; Kruskal–Wallis 1-way
ANOVA).
For women with at least 1 healthy
live boy among their first 3 children (n
= 93), the mean total number of chil-
dren was 1.42 (SD 0.80), while for the
remaining women (n = 63), it was 1.49
(SD 0.84) (P = 0.5855; Mann–Whit-
ney U-test).
A total of 16 mothers (10.7%)
wished to have more children. This was
not correlated with their number of chil-
dren, number of thalassaemic children,
previous genetic counselling or with any
other parameters studied.
Discussion
The mean family size of the popula-
tion of Fars province is around 5, i.e. a
couple with their 3 children [7]. We
found that regardless of the number of
affected children, parents of patients
with Cooley anaemia had an average
of 3 additional children so that these
families had the same mean number of
3 unaffected children as families in the
Table 2 Effect of genetic counselling on the total number of children and number of affected children in each family
ParameterGenetic counselling received
Premarital After birth of an
affected child
P-value
None
Number (%) of families
Mean (SD) number of children
Mean (SD) number of children with beta-thalassaemia
7 (4.5)
2.14 (1.07)
1.00 (0.00)
36a (23.1)
3.39 (1.68)
1.34 (0.59)
114 (73.1)
4.81 (2.28)
1.51 (0.89)
–
0.0013
0.150
a1 mother had counselling both before marriage and after giving birth to an affected child.
SD = standard deviation.
4321
Number of children with thalassemia
10
9
8
7
6
5
4
3
2
1
0
Number of normal children
Figure 1 Minimum, 25th, 50th, 75th percentiles and maximum number of normal children in families with 1–4 children with
beta-thalassaemia major (dead or alive). Dashed line indicates the average number of 3 children in families of Fars province
(the small circle above the left box is an outlier, defined as values 1.5–3 times the interquartile range)

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249
provincial population (Figure 1). Simi-
lar observations were made by Cowan
and Kerr [8]. They reported that 67%
of families with both their 1st and 2nd
children affected by beta-thalassaemia
major had additional children, whereas
37%–38% of those with only 1 of their
1st or 2nd child affected did so [8].
Genetic counselling, either before
marriage or after the birth of the 1st
affected child had a significant effect on
lowering the number of children born
in this study. Therefore, in countries
where thalassaemia is prevalent, one
of the most effective ways to control
the birth of thalassaemia patients is to
establish a good counselling system
[9]. We observed that only 4.5% of
the mothers had received premarital
counselling, but that after the birth of
their 1st affected child, many of them
(23.1%), although not all, sought medi-
cal counselling. Facing the problems of
children with Cooley anaemia seemed
to have a braking effect on the number
of children born so that those mothers
who experienced these problems earlier
(with their 1st or 2nd child affected)
had significantly fewer children than
others. It has been shown, for example
in the United Kingdom, that there are
appreciable differences between differ-
ent ethnic groups in their acceptance of
genetic counselling [10].
Many researchers believe that there
is a sex preference in favour of male
children in some developing countries
[11,12]. This male preference might
cause families of patients with Cooley
anaemia to give birth to children until
they have enough boys. In our study, we
did not observe such a sex preference.
The mean number of children in those
families with at least 1 of their first 3
children being male was almost equal
that of other families. The mother’s wish
to have more children was correlated
with none of parameters studied.
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