Regragui Ismail, Mamad Hassane, El Mokhtari Najoua, Woumki Aziz, Dahmani Fatima, Benkirane Souad, Masrar Azlarab
Central Laboratory of Hematology, Ibn Sina Hospital, University Mohamed V of Medicine, Rabat, MAR.
Cureus. 2025 Mar 8;17(3):e80255. doi: 10.7759/cureus.80255. eCollection 2025 Mar.
Hemoglobinopathies are genetic disorders characterized by qualitative or quantitative abnormalities in globin chain synthesis. This study focuses on Hemoglobin C (HbC) disease, a structural hemoglobinopathy with diverse clinical and hematological manifestations. HbC disease is particularly relevant in populations with high consanguinity rates, where its phenotypic expression and associated complications warrant further investigation.
The aim of this study is to describe the hematological profile of patients with HbC disease diagnosed at the Central Hematology Laboratory of Ibn Sina University Hospital over a two-year period.
A retrospective, descriptive study was conducted on 37 cases of HbC disease identified between November 2022 and November 2024. The study population included AC heterozygotes, CC homozygotes, SC compound heterozygotes, and HbC/beta-thalassemia combinations. The hematological evaluation comprised complete blood counts, reticulocyte counts, blood smear analysis, and hemoglobin fraction quantification using high-performance liquid chromatography (HPLC).
The study identified four distinct HbC phenotypes: heterozygous AC (HbAC), homozygous CC (HbCC), compound heterozygous SC (HbSC), and HbC/beta-thalassemia combinations. The SC phenotype was associated with the most severe hematological abnormalities, including significant hemolysis and anemia. Variations in red blood cell morphology and hemoglobin fractions were observed across phenotypes, with elevated fetal hemoglobin (Hb F) levels noted in HbSC patients.
This study highlights the phenotypic diversity of HbC disease in a Moroccan population, emphasizing the role of consanguinity and genetic background in disease expression. The findings underscore the importance of tailored diagnostic and management strategies to address the burden of hemoglobinopathies in high-consanguinity regions.
血红蛋白病是一类遗传性疾病，其特征是珠蛋白链合成存在定性或定量异常。本研究聚焦于血红蛋白C（HbC）病，这是一种具有多样临床和血液学表现的结构性血红蛋白病。HbC病在近亲结婚率高的人群中尤为相关，其表型表达及相关并发症值得进一步研究。
本研究旨在描述在两年时间里于伊本·西那大学医院中央血液学实验室确诊的HbC病患者的血液学特征。
对2022年11月至2024年11月间确诊的37例HbC病病例进行了一项回顾性描述性研究。研究人群包括AC杂合子、CC纯合子、SC复合杂合子以及HbC/β地中海贫血组合。血液学评估包括全血细胞计数、网织红细胞计数、血涂片分析以及使用高效液相色谱法（HPLC）进行血红蛋白组分定量。
该研究确定了四种不同的HbC表型：杂合子AC（HbAC）、纯合子CC（HbCC）、复合杂合子SC（HbSC）以及HbC/β地中海贫血组合。SC表型与最严重的血液学异常相关，包括显著的溶血和贫血。不同表型的红细胞形态和血红蛋白组分存在差异，HbSC患者的胎儿血红蛋白（Hb F）水平升高。
本研究突出了摩洛哥人群中HbC病的表型多样性，强调了近亲结婚和遗传背景在疾病表达中的作用。研究结果强调了制定针对性诊断和管理策略对于应对高近亲结婚地区血红蛋白病负担的重要性。
