Jacobs Journal of Ophthalmology

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Jacobs Journal of Ophthalmology
Research Article
ABO and Rhesus Blood Groups and Retinoblastoma
Ouattara Y 1*, Kouassi-Ndjeundo JE2, Koffi KV1, Kouassi FX3, Bilé PEFK1, Diabaté Z1, Konan MSMP1, Adjé YA2,
Sékongo L1
Ophtalmology Department- Teaching Hospital of Bouaké (Côte d’Ivoire)
1
ENT Department- Teaching Hospital of Bouaké (Côte d’Ivoire) 3Ophtalmology Department - Teaching Hospital of Cocody (Abidjan,
2
Côte d’Ivoire)
*Corresponding author: Dr. Ouattara Yves, Ophtalmology Department - Teaching Hospital of Bouaké, (Bouaké – Côte d’Ivoire), 01 BP
1174 CHU de Bouaké, Tel: 00 225 57 78 77 47. Email: [email protected]
Received:
04-04-2016
Accepted: 07-27-2016
Published: 09-15-2016
Copyright: © 2016 Ouattara Y
Abstract
Introduction: Retinoblastoma is a formidable eye tumor, of genetic origin, of infant and young child. This study aims to explore
a possible link between retinoblastoma and erythrocyte blood group, the latter genetically induced.
Patients and Methods: It is about a retrospective and descriptive study based on hospitalization records of 16 children carriers
of retinoblastoma for an eleven-years period.
Results: We studied sixteen patients of which 8 girls 8 boys aged 14 to 96 months (median 35). In the AB0 system: 3 patients
were of group A (18.75%), 6 of group B (37.50%), 7 of group 0 (43.75%) and none was of group AB. In the Rh System: all patients
were Rh positive.
Conclusion: In our study, AB blood groups and Rh negative seem to be protected from retinoblastoma occurrence among Ivorian
population.
Keywords: Retinoblastoma; Blood Group; Paediatric Ocular Tumors
Introduction
Retinoblastoma is a high-malignity tumor in infant and child,
genetically determined and developed from immature retinal
cells. Indeed, tumor appearance is conditioned by occurrence
of two retinoblastoma gene mutations in the RB1 gene, located
on the short arm of chromosome 13 [1-4], with a global
incidence estimated at 1/18000 births [5-7].
In developed countries, diagnosis precocity and qualified
resources availability of both human and materials as well
as good management codification considerably improved the
prognosis, which is not the case in the low-income countries,
particularly in Africa [8,9]. In the latter, the fight against
retinoblastoma presents numerous challenges: early diagnosis,
implementation of average human medians, sufficient materials
and also a well-codified fight strategy. This strategy has to take
into account tumor genetic determinism and in particular
possible factors of mutation expressiveness at the origin of its
appearance. This is the purpose that we wondered about the
existence of a link between erythrocyte profile in AB0 and Rh
and retinoblastoma occurrence. Indeed, these blood groups
connected with the existence of specific antigens on the red
cells of the blood or erythrocytes, genetically induced, are the
most used in transfusion environment and well enough known
since the discovery by Karl LANDSTEINER of AB0 system
in 1900 and that of rhesus system in 1939 [10,11]. Would
pertaining to one of these groups have a protective effect or
Cite this article: Ouattara Y. ABO and Rhesus Blood Groups and Retinoblastoma. J J Ophthalmol. 2016, 2(2): 020.
Jacobs Publishers
2
on the contrary, would it expose at the risk of retinoblastoma
developing?
Patients and Methods
Our study is retrospective based on the exploitation of
medical records of children hospitalized in the Ophthalmology
Department of Cocody TEACHING HOSPITAL in Abidjan from
January 1st, 2000 to December 31st, 2010. We excluded
patients escaped or taken out against medical notice. The
diagnosis was made on the basis of clinical data (fundus
oculi for intraocular tumors) with a determination of the
evolutionary stage by the classification of Reese-Ellsworth
[12]. These clinical data were completed by intratumoral
calcifications highlighting in oculo-orbital ultrasound
and scanning. All the tumors have been diagnosed in very
advanced stages, the histological confirmation was realized on
operating documents. Sociodemographic variables found for
each patient were: sex, age at the time of the diagnosis, and
his/her rural or urban origin. All the patients were black. On
the clinical and paraclinical dimension, we found the tumor
laterality, its evolutionary stage at the time of diagnosis and
erythrocyte patient blood group in AB0 and Rhesus system,
identified through simultaneous determination of erythrocyte
antigens (spherical test or BETH-VINCENT) and natural
plasmatic antibodies (SIMONIN-MICHON test and Serum)
[11,13]. No statistical valid test could be made and we only did
a descriptive analysis.
Results
There were 16 patients consisted of 8 girls and 8 boys (sex
ratio=1). Age average at the time of the diagnosis was of 35.4
months that is approximately 2 years and 11 months with
14-months extremes (on 1 year and 2 months) and 96 months
(8 years) old. In the majority of the cases (11 patients or 68.75
%), diagnosis was made between 2 and 5 years (table I).
Age ranges(Year)
[0 ; 2]
[2 ; 5]
≥5
Total
Number Percentage
03
11
02
16
18.75%
68.75%
12.5%
100%
No patient belongs to AB group. However, more than 2 patients out of
5 belong to 0 group.
Table 1. Age ranges at the diagnosis. Less of 1/5 cases are diagnosed
before the age of 2 years and the majority of the cases are diagnosed
between 2 and 5 years.
Eleven patients were of urban origin (68.75 %), whereas the
remaining 5 (31.25 %) came from rural areas. Tumor was
unilateral in 15 patients (93.75 %): localized in the right eye
in 6 patients (37.5 %) and in the left eye in 9 patients (56.25
%). Tumor was bilateral in 1 patient (6.25 %). At the time of
the diagnosis, the tumor was at the stage V of Reese-Ellsworth
(including bilateral retinoblastoma) in 3 patients (18.75 %).
In 13 patients, diagnosis was made in front of an extra-eye
shape revealed by a malignant tumoral exophthalmia. No
retinoblastoma history was found in each of the patients.
AB0 Blood Group
Group A
Group B
Group AB
Group 0
Total
Number
03
06
00
07
16
Frequency
18.75%
37.50%
00%
43.75%
100%
Table 2. Distribution of patients according to the erythrocyte blood
group in the AB0 system.
Regarding the AB0 system, 3 patients were of group A (18.75
%), 6 patients of group B (37.5 %), 7 patients of group 0 and no
patient group AB (Table II ). Regarding the Rh system, all the
patients were Rh positive.
Discussion
Our sample consists of an equal number of girls and boys,
confirming the absence of predispositions bound to sex and
race according to Balmer and Desjardins [14,15]. Patients’
age at the time of the diagnosis between 14 months and 96
months (median of about 35 months) is comparable to the
data of Kouassi and al, on a 21-patients series followed up
from 1997 to 2006 in Abidjan, Côte d’Ivoire, found a 32-month
median age at the time of the diagnosis and 71.43 % of the
cases diagnosed after the age of 2 years [16]; while Desjardins
and al, on a 153-patient series treated between 1995 and
1998 in France had found an age of diagnosis between 0 and
94 months with a median of 12 months [17]. It confirms the
late diagnosis of cancers generally and retinoblastoma in
particular, in our conditions. However, retinoblastoma is of
relatively easy diagnosis, suspected in front of a leukocoria or
a squint of recent appearance in infant [18,19]. These signs
easy to recognize as well by the parents as by first-contact
health workers of our sanitary system (nurses, midwives,
general practitioners and pediatricians) have to motivate an
ophthalmological consultation as soon as possible. So, a simple
examination of the bottom of eye would allow to make the
diagnosis for an early stage, intraocular of the disease, with
a better prognosis so functional as vital. On the contrary to
developed countries where more than 90% of retinoblastoma
cases diagnosed are cured [9], this tumor constitutes a real
nightmare in low-income countries. In our series, the tumor
was diagnosed at a so advanced stage that management
required a very mutilating surgical operation without the
guarantee of good prognosis for survival. Indeed, in Côte
d’Ivoire for example, Kouassi and al noted an average survival
of 11 months with segments of 6 and 15 months in spite of a
heavy mutilating surgery associated with a chemotherapy [16].
Cite this article: Ouattara Y. ABO and Rhesus Blood Groups and Retinoblastoma. J J Ophthalmol. 2016, 2(2): 020.
Jacobs Publishers
National programs implementation for fight against cancers
has improved of few years retinoblastoma prognosis in Africa,
but this one remains still bad, in comparison to developed
countries [19-21]. However, we note that the extreme age of
the diagnosis in our series which is 96 months is comparable
to the extreme age of the diagnosis in the series of Desjardins,
which is 94 months [17]. This can be explained by the existence
of forms of late appearance, without purebred distinction
[14,15] and justifies the necessity of a prolonged surveillance
of subjects presenting family history of retinoblastoma.
Numerous works allowed to better understand the genetics
of retinoblastoma: the RB1 gene transformations are
necessary to develop of the tumor. So, in the bilateral forms
there is a somatic pre-existent transformation transmissible
to descendants, whereas in the unilateral forms, both
transformations arise at the level of the retinal cells. However,
10 to 15 % of the unilateral forms would arise in the presence
of a constitutional germinal transformation [1-4]. The great
majority of the unilateral forms of our series (93.75 %) could
be explained genetically by non-constitutional mutations
(arisen at the level of the retina) and justify also the absence
of family retinoblastoma history. Moreover, the rural origin of
certain patients (31.25 %) establishes a brake tosearch certain
family histories. It is the case where sought pathologies are
culturally connected with supernatural causes or with penalty
of a transgression of social prohibitions. As for erythrocytes
blood groups, they correspond to membrane antigens of red
blood cells which expression is determined by a series of
polymorphic genetic systems:
• the AB0 system defined by 3 antigens on the surface of red
blood cells and their expression is controlled by 2 loci whose
genes are situated on the chromosome 9; the Rh system defined
by fifty antigens andonly 5 among them have a clinical interest
(D, C, E, c and e) whose genes are situated on the chromosome
1 [11].
The gene that controls the appearance of the retinoblastoma
(chromosome 13) and those who determine the erythrocytes
blood groups in the AB0 systems (chromosome 9) and Rh
system (chromosome 1) are very different. The absence of
representatives of AB group and Rh-negative in our series
would be explained by their weak representation within the
Ivorian population.
Therefore, according to Dulat and al, from 11229 blood samples
to the National Institute of Public health of Abidjan, this would
be composed as follows: group A=23.7 %, group B=23.6 %,
group 0=48.1 %, group AB=4.6 %, Rhesus positive = 94.7
% and Rhesus negative =5.3 % [22]. Our results would thus
be the reflection of the distribution of the erythrocyte blood
groups within the Ivorian population. However, more thorough
studies, on a larger series would be necessary to establish the
absence of correlation between the retinoblastoma and the
erythrocyte blood groups.
Conclusion
3
Retinoblastoma is a genetic-origin tumor bound to the RB1gene double mutation. The expressiveness of this mutation
could have a link with other biological markers such as the
erythrocyte blood groups in the AB0 system and Rh system.
Our study was not able to establish if there is no link among
retinoblastoma and AB group and Rh negative group subjects.
More thorough studies on a larger series could confirm or
not the protective role of certain erythrocyte groups towards
retinoblastoma occurrence. Besides, they could measure the
impact on the prognosis of the tumor.
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Cite this article: Ouattara Y. ABO and Rhesus Blood Groups and Retinoblastoma. J J Ophthalmol. 2016, 2(2): 020.