Rizo-delaTorre Lourdes Del Carmen, Herrera-Tirado Isis Mariela, Hernández-Peña Rubiceli, Ibarra-Cortés Bertha, Perea-Díaz Francisco Javier
División de Medicina Molecular. Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud. Universidad de Guadalajara, Guadalajara, Jalisco, México.
Ann Hum Genet. 2022 Mar;86(2):87-93. doi: 10.1111/ahg.12451. Epub 2021 Nov 29.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis (HS), and alpha thalassemia (α-thal) are frequent erythrocyte pathologies with different geographic distributions worldwide. Our aim is to report hematological and molecular findings of G6PD deficient Mexican patients in coinheritance with suggestive hereditary spherocytosis (sHS) and α-thal.
We studied 78 G6PD deficiency patients. Hematological parameters, acidified glycerol lysis test, erythrocyte morphology, electrophoresis, and hemoglobin quantification were obtained. G6PD and HBA2/HBA1 variants were identified using ARMS-PCR, Gap-PCR, or Sanger sequencing.
Nine G6PD variants were identified; A , A , and A as the most frequent. G6PD Santiago de Cuba and Kamiube were detected in Mexicans for first time. Hematological analysis revealed additional erythrocyte pathologies in 52 patients, 32 with positive osmotic fragility test and spherocytes in blood smear (suggestive hereditary spherocytosis, sHS), 12 with microcytosis and 8 with all three defects who had the most severe phenotype, with significantly lower hematological parameters (Hb, PCV, MCV, and MCH). α-thal variants (α α, α α and -α ) were observed in 65% of patients with microcytosis.
Additional erythrocyte defects were observed in 69.3% of G6PD deficiency patients. We stress the importance of searching for the presence of additional erythrocyte hereditary diseases in patients with G6PD deficiency.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症、遗传性球形红细胞增多症（HS）和α地中海贫血（α-thal）是常见的红细胞疾病，在全球具有不同的地理分布。我们的目的是报告合并提示性遗传性球形红细胞增多症（sHS）和α-thal的G6PD缺乏的墨西哥患者的血液学和分子学研究结果。
我们研究了78例G6PD缺乏患者。获取了血液学参数、酸化甘油溶解试验、红细胞形态、电泳和血红蛋白定量结果。使用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）、缺口聚合酶链反应（Gap-PCR）或桑格测序法鉴定G6PD和HBA2/HBA1变体。
鉴定出9种G6PD变体；A⁻、A⁺和A⁻⁺最为常见。古巴圣地亚哥型和神户型G6PD首次在墨西哥人中被检测到。血液学分析显示52例患者存在其他红细胞疾病，32例渗透脆性试验阳性且血涂片中有球形红细胞（提示遗传性球形红细胞增多症，sHS），12例有小红细胞症，8例同时存在这三种缺陷，其表型最为严重，血液学参数（血红蛋白、红细胞压积、平均红细胞体积和平均红细胞血红蛋白含量）显著更低。65%的小红细胞症患者中观察到α-thal变体（αα/αα、αα/-α和--/αα）。
69.3%的G6PD缺乏患者中观察到其他红细胞缺陷。我们强调在G6PD缺乏患者中寻找其他红细胞遗传性疾病的重要性。
