ABO and Rhesus Blood Groups and Retinoblastoma

Research Article

ABO and Rhesus Blood Groups and Retinoblastoma

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: yvesouatta@yahoo.com
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 
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 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.
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).
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.
Table 2. Distribution of patients according to the erythrocyte bloodgroup 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.
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]. 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.
Retinoblastoma is a genetic-origin tumor bound to the RB1- gene 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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