Guindo Aldiouma, Koya Abdulmalik, Sarro Yeya Dit Sadio, Toure Assa Badiallo, Doumbia Modibo, Traoré Youssouf, Kene Sekou, Diarra A B, Diallo D A
Centre de Recherche et de Lutte contre la Drépanocytose (CRLD) de Bamako, Bamako, Mali.
Direction Centrale des Services de Santé des Armées du Mali, Bamako, Mali.
Hemoglobin. 2024 Sep;48(5):314-318. doi: 10.1080/03630269.2024.2419889. Epub 2024 Nov 4.
Sickle cell disease (SCD) is a prevalent inherited blood disorder arising from a single point mutation that results in substitution of valine with glutamic acid in the Beta hemoglobin chain, making red blood cells assume a banana shape under low oxygen state. It is most prevalent in sub-Saharan Africa, affecting approximately 2% of the population in Mali. This study aimed to evaluate the iron status and associated hematological parameters in SCD patients at steady state in an environment with a high prevalence of iron deficiency. A cross-sectional study was conducted at the Center de Recherche et de Lutte contre la Drépanocytose (CRLD) in Bamako, Mali, involving 757 SCD patients aged 10 to 29 years. Iron deficiency was defined as serum ferritin < 20 ng/mL, while iron overload was associated with serum ferritin > 500 ng/mL. The study population consisted of 171 (22.6%) hemolytic phenotypes (SS and Sβ) and 586 (77.4%) viscous phenotypes (SC and Sβ). Iron deficiency was found in 19 SCD patients (2.5%), with a higher prevalence in the SC phenotype (68.4%). All iron-deficient subjects exhibited microcytosis (MCV < 80 fL) and hypochromia (MCH < 26 pg). Hemoglobin levels < 12 g/dL were observed only in homozygous SCD patients. Low reticulocyte counts were noted in iron-deficient subjects with SC and Sβ+ phenotypes, but not in iron-deficient SS subjects. Serum C-reactive protein (CRP) was normal (< 10 mg/L) in all iron-deficient subjects, excluding iron deficiency due to chronic inflammation. Iron deficiency was observed among 2.5% of the study population, with a predominant occurrence among those with SC phenotype. All iron deficient subjects had microcytosis and hypochromia. Hemoglobin levels below 12 g/dL were only found in homozygous SCD patients. Additionally, low reticulocyte counts were noted in iron deficient patients with SC and Sβ+ phenotypes, though not in those with the SS phenotype. These findings contribute to the understanding of iron status in SCD patients in an African context and highlights the importance of monitoring iron levels in these population to prevent complications associated with iron deficiency or overload.
镰状细胞病（SCD）是一种常见的遗传性血液疾病，由单点突变引起，导致β血红蛋白链中的缬氨酸被谷氨酸取代，使红细胞在低氧状态下呈香蕉状。它在撒哈拉以南非洲最为普遍，在马里约2%的人口中受影响。本研究旨在评估在缺铁患病率高的环境中，处于稳定状态的SCD患者的铁状态及相关血液学参数。在马里巴马科的镰状细胞病研究与防治中心（CRLD）进行了一项横断面研究，涉及757名年龄在10至29岁的SCD患者。缺铁定义为血清铁蛋白<20 ng/mL，而铁过载与血清铁蛋白>500 ng/mL相关。研究人群包括171名（22.6%）溶血表型（SS和Sβ）和586名（77.4%）粘性表型（SC和Sβ）。在19名SCD患者（2.5%）中发现缺铁，在SC表型中患病率更高（68.4%）。所有缺铁受试者均表现为小红细胞症（平均红细胞体积<80 fL）和低色素血症（平均红细胞血红蛋白含量<26 pg）。仅在纯合子SCD患者中观察到血红蛋白水平<12 g/dL。在具有SC和Sβ+表型的缺铁受试者中观察到网织红细胞计数低，但在缺铁的SS受试者中未观察到。所有缺铁受试者的血清C反应蛋白（CRP）均正常（<10 mg/L），排除了慢性炎症导致的缺铁。在2.5%的研究人群中观察到缺铁，主要发生在具有SC表型的人群中。所有缺铁受试者均有小红细胞症和低色素血症。血红蛋白水平低于12 g/dL仅在纯合子SCD患者中发现。此外，在具有SC和Sβ+表型的缺铁患者中观察到网织红细胞计数低，而在具有SS表型的患者中未观察到。这些发现有助于了解非洲背景下SCD患者的铁状态，并强调在这些人群中监测铁水平以预防与缺铁或铁过载相关并发症的重要性。
