Ann. afr. méd. (En ligne); 4 (11), 2011
Publication year: 2011
Objectif :
Identifier les manifestations inaugurales de la drepanocytose; en determiner l'age d'apparition et les caracteristiques biologiques de la maladie au moment de ladecouverte et apprecier l'influence du profil electrophoretique de l'hemoglobine sur l'age d'apparition de la maladie. Materiel et methode :
Enquete prospective de janvier 2007 a mars 2010; portant sur les enfants admis pour des manifestations cliniques ou biologiques suggestives d'une drepanocytose; et chez qui le diagnostic a ete confirme a l'electrophorese de l'hemoglobine; par electrofocalisation sur milieu alcalin. Resultats :
L'age median d'apparition des manifestations inaugurales et de la decouverte de la maladie drepanocytaire etait respectivement de 9 mois (extremes : 3 mois et 9 ans) et de 13 mois (extremes : 4;5 mois et 9 ans). Dans 196 cas (76); les antecedents de drepanocytose n'etaient pas retrouves dans la famille. Toutefois; l'electrophorese de l'hemoglobine des parents (n = 107) a objective l'existence de la tare chez les deux parents dans 101 cas. Dans 78;3des cas; la maladie a ete decouverte chez des enfants ayant deja presente des manifestations cliniques suggestives d'une drepanocytose. A la decouverte de la maladie; l'etat nutritionnel etait bon chez 191 enfants (74). Les circonstances de decouverte de la maladie drepanocytaire etaient dominees par l'anemie severe (46;1); la dactylite (26;7); et l'infection pulmonaire (12). Quant aux phenotypes drepanocytaires retrouves; il s'agissait du phenotype SS dans 193 cas (74;8); SFA2 dans 53 cas (19;0); S-?0thalassemie dans 3 cas (1;2) et S-?+thalassemie dans 1 cas (0;4). Cette enquete a montre l'influence du niveau scolaire du pere (p 0;01) mais pas celui de la mere ni du statut socio-economique de la famille (p 0;05) sur l'age de decouverte de la maladie. Nous n'avons pas observe d'association entre le taux d'Hb F et l'age d'apparition de premieres manifestations cliniques de la maladie dans la population d'etude. Conclusion :
La decouverte de la drepanocytose chez l'enfant constitueencore une surprise pour la majorite des parents a Brazzaville. Cette decouverte est jugee tardive eu egard a la precocite des manifestations inaugurales de la maladie. La mise en place d'une politique efficace de prevention permettrait d'en reduire la frequence et d'en ameliorer le pronostic
Objectives:
Identify the early clinical manifestations of Sickle cell anemia, determine patient’s average age and biological characteristics at the disease onset and assess the possible role of electrophoretic profile of haemoglobin on the age of disease onset at the university hospital of Brazzaville, Republic of Congo. Material and methods:
A prospective survey was conducted from January 2007 through March 2010 at the University hospital of Brazzaville in which children admitted with symptoms and biological findings suggestive of Sickle cell anemia, confirmed by haemoglobin electrophoresis, were enrolled. Haemoglobin was measured using the technique of electrofocalisation in alkaline. Results:
In total, 258 homozygous cases of Sickle cell disease were enrolled. The median age of the first onset of clinical manifestation and the diagnosis of Sickle cell anaemia was 9 months (range: 3 months - 9 years) and 13 months (range: 4.5 moths- 9 years) respectively. Among the patients, family history of Sickle cell disease was absent in 196 cases (76%). However, the presence of Sickle cell trait in a parent was found in 107 cases (41.5%) while both parents were
Sickle cell trait carriers in 101 cases (39.1%). In 78.3% of cases, the diagnosis of Drepanocytosis was made in infants who have already presented clinical manifestations suggestive of the disease. 191 patients (74%) had a good nutritional status at the time of diagnosis and the most prevalent circumstances that led to the diagnosis were severe anaemia (46.1%), dactylitis (26.7%) and pneumonia (12%). As for the drepanocytosis phenotypes, the SS phenotype was found in 193 cases (74.8%), SFA2 in 53 cases (19%), S-β0Thalassemia in 3 cases (1.2%) and S- β+thalassemia in 1 case (0.4%). This study highlights the influence of educational level of the father (p<0.01), but not the mother nor the socioeconomic status of the family (p>0.05) on the age of disease diagnosis. However, no correlation was found between the level of protective Hb F and age of the first onset of clinical manifestations of the disease in the study population. Conclusion:
The first onset of clinical manifestations of Sickle cell disease in children still comes as a surprise for most parents in Brazzaville, Republic of Congo. The lack of accurate knowledge on its early manifestations by parents may possibly explain the delayed diagnosis of the disease. Improving communication and information in the community, coupled with a better prevention policy, should be mandatory for an effective management of Sickle cell disease.