临检血液学-—红细胞疾病应用3.PPT

Pathways of energy metabolism in the erythrocyte. Glucose 6-phosphate may be degraded anaerobically to lactate through the Embden–Meyerhof pathway, or oxidatively through the hexose monophosphate shunt. Pentose phosphates (R-5-P) can reenter anaerobic glycolysis as fructose 6-phosphate (F-6-P) and glyceraldehyde 3-phosphate (G-3-P) after conversion by enzymes of the terminal pentose phosphate pathway or as a product of adenosine or inosine degradation. 2,3-diphosphoglycerate (2,3-DPG) may be generated instead of adenosine triphosphate (ATP) through diversion of triose through the Rapoport–Luebering shunt. Glutathione may be synthesized directly from constituent amino acids; its cycling from oxidized (GSSG) to reduced forms (GSH) depends on reduced pyridine cofactor (NADPH) generation. ADP indicates adenosine diphosphate; DHAP, dihydroxyacetone phosphate; FDP, fructose 1,6-diphosphate; NAD, nicotinamide adenine dinucleotide; NADP, nicotinamide adenine dinucleotide phosphate; NADPH, nicotinamide adenine dinucleotide phosphate, reduced form; and PEP, polyestradiol phosphate. Reproduced with permission from Gallagher.42 Unstable hemoglobins: peripheral blood smear and Heinz body preparation. Peripheral smear (left) shows “bite” cells with pitted-out semicircular areas of the red blood cell membrane as a result of removal of Heinz bodies by macrophages in the spleen. The Heinz body preparation (middle) shows increased Heinz bodies in the same specimen compared with a control (right). Reproduced with permission from Benz and Ebert.41 红细胞疾病应用 广州医科大学附属第一医院血液科 谭 获(1030158) 内容 1 2 3 红细胞酶缺陷性溶贫 自免溶贫、血红蛋白病 外来肿瘤细胞浸润骨髓所致贫血 红细胞酶缺陷性溶血性贫血 RBC的能量代谢途径 * 红细胞葡萄糖6-磷酸脱氢酶缺陷症 Glucose-6-phosphate dehydrogenase deficiency ? 一种遗传性疾病，伴性不完全显性遗传。酶的基因定位于Xq28。 Heinz body 分五型： 1．蚕豆病（favism）； 2．药物致溶血性贫血； 3．感染诱发溶血； 4．新生儿高胆红素血症; 5．遗传性非球形红细胞溶血性贫血。 ? 可诱发G-6-PD缺乏者发生溶血的药物 检 验 1 筛检试验 （1）高铁血红蛋白还原试验 （2）硝基四氮唑蓝试验纸片法 （3）G6PD荧光斑点法 2 确诊试验 （1）G6PD的生化检测方法 （2）分子生物学方法： 核苷酸序列