血红蛋白检测的临床意义.ppt

* * carrier * On capillary there is clear separation of H and Barts Barts seen a birth- % equated to projected alpha deletion Precursor of H No treatment for child even with 2 alpha chain deletion- can see mild anemia Deletion of 4 alpha genes – hydrops fetalis – death at birth or * Some bone marrow transplants on 2 babies inutero still living at the at young age carrier * carrier * carrier * carrier * * * * * * * * * * * * Adopted child, 4 Y, originated from Haiti, Hgb 10.9, Hematocrit 31.3, MCV 76.9 Hb A 97.5% Hb A2 1.4% Hb X 1.1% Hb A Hb A2 Hb X Slight anemia; heterozygous Delta mutation, asymptomatic Diabetic patient, 73 Y, Hgb 10.2, hematocrit 30.8, MCV 87.3 Alpha chain mutation; genotyping confirmation: Hb Winnipeg a 75 Asp Tyr Hb A- Wi Hb A2-Wi Hb A Hb A2 Hb A 90.3% Hb F 3.8% Hb A2 5.9% Hb A Hb F Hb A2 Hb A 64% Hb S 33.1% Hb A2 2.9% Hb A Hb S Hb A2 Hb A 2.2% Hb F 67.3% Hb S 29.1% Hb A2 1.4% Hb A Hb F Hb S Hb A2 Father: Beta thalassemia minor Mother: Heterozygote AS Baby 2 months old: Association S - beta thalassemia Hb Lepore on Minicap/Capillarys A N Alc. A2 Lepore N Ac. A0 + Lepore A1 Hb A2 Hb A Hb F Hb Lepore AFSC control overlaying Hb Lepore b和d链重新组合形成. 在碱性缓冲液下电泳: 总体带电荷下降→ 电泳位置出现 在S型血红蛋白附近 基因杂合体: Hb Lepore fraction: 5 – 15 % Clinical signs of minor b thalassemia 基因纯合体: Hb Lepore fraction: about 30 % Clinical signs of homozygous b thalassemia 常见区域: Lepore (- Boston – Washington): 常见于意大利人群; 同样常见于在罗马尼亚, 澳大利亚和墨西哥人群. 特点: a47 Asp→His Hb Hasharon Hb A Hb A2 Hb F Hb Hasharon Hb Ha-A2 Hb O-Arab b121 Glu→Lys Hb A2+ O-Arab Hb F Hb A 发现健康的携带者的途径: 预防过程: (妇产科医生建议, 遗传顾问, 随机检查中发现….) - 在血片上偶然发现低色素性小红细胞. - 当一位妇女被诊断为地贫携带者, 她的伴侣也应当被检查；夫妇双方应当去咨询遗传专家(尽可能早的在出生前诊断). 总结 在血红蛋白疾病的高发区, 血红蛋白筛查需要定位成必检项目, 从而有效制止血红蛋白疾病的延续 血红蛋白的检测要注意以下要点: 临床观察结果 生物学特征 区域来源 家庭其他成员的检测 carrier * * carrier * carrier * carrier * “S”型血红蛋白 Sickle Cells disease 常见区域: 地中海区域国家,