Biosciences Department, Université Félix Houphouët-Boigny de Cocody, Abidjan, Côte d'Ivoire.
Department of Parasitology-Mycology, Institut Pasteur de Côte d'Ivoire, Abidjan, Côte d'Ivoire.
BMC Med Genomics. 2022 May 23;15(1):120. doi: 10.1186/s12920-022-01263-3.
Sickle cell disease (SCD) is a hemoglobin disorders that concern 300,000 newborns each year around the world. There are hemoglobin haplotypes that affect SCD clinic expression.
Our goal was to identify the hemoglobin's haplotypes among individuals with mild malaria independently of SCD status in Côte d'Ivoire. To determine these haplotypes, specific restriction enzyme (RE) is used after PCR amplification with each primer. According to the digestion of PCR product by RE, five hemoglobin's haplotypes are found in the world.
In Côte d'Ivoire, no study has yet deeply described the distribution of haplotypes. Four different "classical" haplotypes of hemoglobin were detected: Benin (56.5%), Bantou (28.5%), Senegal (4%), Cameroun (1%); and 10% of atypical profiles. Heterozygous haplotype (69%) were more frequent than homozygous haplotype (31%).
In this preliminary study, we note a high prevalence of atypical and heterozygous haplotype. Benin haplotype that is associated with severity of SCD was most predominant in our studied population.
镰状细胞病（SCD）是一种血红蛋白疾病，每年在全球影响 30 万新生儿。存在影响 SCD 临床表型的血红蛋白单倍型。
我们的目的是在科特迪瓦，独立于 SCD 状态，确定个体中轻度疟疾相关的血红蛋白单倍型。为了确定这些单倍型，在 PCR 扩增后使用特定的限制酶（RE）与每个引物一起使用。根据 RE 对 PCR 产物的消化，可以在世界范围内发现五种血红蛋白单倍型。
在科特迪瓦，尚未有研究深入描述单倍型的分布。检测到四种不同的“经典”血红蛋白单倍型：贝宁（56.5%）、班图（28.5%）、塞内加尔（4%）、喀麦隆（1%）；以及 10%的非典型谱。杂合单倍型（69%）比纯合单倍型（31%）更为常见。
在这项初步研究中，我们注意到非典型和杂合单倍型的高患病率。与 SCD 严重程度相关的贝宁单倍型在我们的研究人群中最为普遍。
