Boyadjian Marie, Follenfant Emilie, Chamouine Abdourahim, Maillard Olivier, Durasnel Philippe, Collet Louis, Blondé Renaud
Service de Pédiatrie, Centre Hospitalier Mayotte.
Service de Réanimation polyvalente, Centre Hospitalier de Mayotte.
J Pediatr Hematol Oncol. 2022 Oct 1;44(7):363-368. doi: 10.1097/MPH.0000000000002381. Epub 2021 Dec 30.
Severe hemolytic anemia is a rare complication of glucose-6-phosphate dehydrogenase (G6PD) deficiency. It occurs with the Mediterranean (Med) variant corresponding to a class 2 deficiency according to the World Health Organization (WHO) classification, and it correlates with a severe deficiency in G6PD activity. In Mayotte, the majority of patients have the African (A-) variant as a WHO class 3 deficiency. Yet we have observed numerous cases of severe hemolytic anemia defined by a hemoglobin level of <6 g/dL. In this study, we aimed to describe the epidemiological, clinical, and biological features as well as the treatment modalities of children presenting with a severe hemolytic crisis secondary to G6PD deficiency in Mayotte. The secondary objective was to study the disease genotype when this information was available. Between April 2013 and September 2020, 73 children presented with severe anemia because of G6PD deficiency in Mayotte. The median hemoglobin level during the hemolytic crises was 3.9 g/dL. All of the patients underwent a transfusion and hospitalization. Twenty patients had a disease genotype: 11 had the African mutation and 9 had the Med mutation. Although they are among the most common triggers of G6PD acute hemolytic anemia, drugs were found to not be present and fava bean ingestion was found in only 1 child. One of the specific triggers was traditional medicine, including Acalypha indica . Severe hemolytic crisis in children because of G6PD deficiency is a frequent occurrence in Mayotte. The patients had severe disease symptoms, but the severity did not correlate with the genotype: the African (A-) variant and the Med variant resulted in the same level of disease severity.
严重溶血性贫血是葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的一种罕见并发症。它与地中海型（Med）变体有关，根据世界卫生组织（WHO）的分类，该变体属于2类缺乏症，并且与G6PD活性严重缺乏相关。在马约特岛，大多数患者具有非洲型（A-）变体，属于WHO 3类缺乏症。然而，我们观察到许多血红蛋白水平<6 g/dL的严重溶血性贫血病例。在本研究中，我们旨在描述马约特岛因G6PD缺乏继发严重溶血性危机的儿童的流行病学、临床和生物学特征以及治疗方式。次要目标是在有可用信息时研究疾病基因型。2013年4月至2020年9月期间，马约特岛有73名儿童因G6PD缺乏出现严重贫血。溶血性危机期间的血红蛋白水平中位数为3.9 g/dL。所有患者均接受了输血和住院治疗。20名患者有疾病基因型：11名有非洲型突变，9名有地中海型突变。尽管药物是G6PD急性溶血性贫血最常见的诱因之一，但未发现患者接触过药物，仅1名儿童食用过蚕豆。其中一个特定诱因是传统药物，包括蓖麻。在马约特岛，儿童因G6PD缺乏导致的严重溶血性危机很常见。患者有严重的疾病症状，但严重程度与基因型无关：非洲型（A-）变体和地中海型变体导致的疾病严重程度相同。
