Les β-thalassémies de l'enfant camerounais : étude de la symptomatologie en fonction des différentes formes biologiques

Abstract

L'association β-thalassémie et trait drépanocytaire donne lieu à des phénotypes variés. Elle peut engendrer des crises douloureuses vaso-occlusives. Nous avons observé dans notre pratique quotidienne des phénotypes S-β-thalassémiques où des sujets souffraient des crises douloureuses, tandis que d'autres en étaient indemnes. Notre objectif a été de contribuer à une meilleure compréhension de l'expression clinique de l'association des traits S et β-thalassémique. Sur les 65 sujets inclus dans notre étude nous avions identifié neuf phénotypes de β-thalassémie,

Beta-thalassaemia: Four cases at the mother and child centre of the Chantal Biya Foundation

“…Our clinical case No 1 reported a haemoglobin HbAA electrophoresis, which is a frequent finding in our setting, showing a misinterpretation of haemoglobin electrophoresis results because the disease is less known by doctors. Nsangou I et al also found in their study that 33.08% of subjects whose haemoglobin electrophoresis results were reported as HbAA were in fact beta-thalassaemic [9]. Correct interpretation of haemoglobin electrophoresis would therefore enable an early diagnosis of beta-thalassaemia and better management.…”

“…Its prevalence varies widely around the world, and is particularly high in countries around the Mediterranean, the West Indies, and the Middle East, South and East Asia and certain regions of Africa [8]. In Cameroon, Nsangou I et al in 2012 showed that the betathalassaemia trait was more frequent at 28.05% than that of sickle cell disease, which was 20.73% [4,9]. However, clinical diagnosis is difficult because of the variability of the clinical presentation due to the diversity of mutations responsible for the haemoglobin abnormalities encountered in beta-thalassaemia.…”

“…In addition, none of our patients presented with the pain syndrome seen in sickle cell disease, which could have been the cause of the delay in diagnosis observed, since in our context the association of the pain syndrome with recurrent anaemia is the main indication for haemoglobin electrophoresis, which could have revealed these haemoglobin abnormalities earlier. In their 2012 study, Nsangou I et al in Cameroon also found that all beta-thalassaemia children who did not have the sickle cell trait did not present with sickle cell major pain syndrome [4].…”

“…In beta-thalassaemia, Foetal Haemoglobin (HbF), Haemoglobin A2 (HbA2) that are compatible with life [2,3], compensates for the lack of normal haemoglobin A1. The different combinations of these HbA2, HbF and HbA1 fractions give rise to the different phenotypes of beta-thalassaemia [4].Beta-thalassaemia is widespread throughout the world, with around 80 to 90 million people being healthy carriers and an estimated global incidence of symptomatic forms of the disease of 1/100,000 births per year [5,6]. Although it is one of the most common autosomal recessive diseases in the world [7], clinicians know little about the disease, which leads to delays in diagnosis and management, resulting in high morbidity and mortality.…”

Epidemiological, clinico-biological, therapeutic and evolutionary aspects of β-thalassemia in Morocco

“…Elles sont très largement répandues dans le monde [1]. Durant la période de l'étude, 81 cas de la thalassémie ont été colligés, qui sont tous des ␤-thalassémiques, puisque les ␣thalassémiques sont très rares dans le bassin méditerranéen [2]. Selon la répartition de l'Organisation mondiale de la santé (OMS), le Maroc est en 10 e place dans la région de la mer Méditerranée en ce qui concerne la bêta-thalassémie majeure [3].…”