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JCLA：地中海贫血对尼日利亚镰状细胞性贫血患儿临床及实验室参数的影响

2019-06-03 不详 网络

地中海贫血
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目前，关于地中海贫血对尼日利亚镰状细胞贫血(SCA)患者临床和实验室参数的影响，仍缺乏相关数据。本研究旨在确定尼日利亚SCA年轻患者中地中海贫血的患病率以及地中海贫血对实验室参数和临床表现的影响。 这是一项横断面回顾性研究，研究人员对100名SCA患者和63名对照组进行了研究。DNA研究证实了关于SCA的诊断。采用多重gap‐PCR方法进行地中海贫血基因分型。采用标准技术测定全血计数、血红蛋

目前，关于地中海贫血对尼日利亚镰状细胞贫血(SCA)患者临床和实验室参数的影响，仍缺乏相关数据。本研究旨在确定尼日利亚SCA年轻患者中地中海贫血的患病率以及地中海贫血对实验室参数和临床表现的影响。

这是一项横断面回顾性研究，研究人员对100名SCA患者和63名对照组进行了研究。DNA研究证实了关于SCA的诊断。采用多重gap‐PCR方法进行地中海贫血基因分型。采用标准技术测定全血计数、血红蛋白定量、血清乳酸脱氢酶(LDH)、胆红素等实验室指标。

研究人员在41个病例中确诊了(41.0%)α地中海贫血，与24例阴性对照相比，均是由于κbα球蛋白基因缺失所导致的。地中海贫血与患者频繁的骨痛危象、更高的血红蛋白浓度、红细胞计数和HbA2水平有关。相反，α地中海贫血患者微粒体积较低，微粒血红蛋白和白细胞计数(WBC) (P˂0.05)。其中6例(6.0%)腿部溃疡，无地中海贫血，P = 0.04。

本研究证实，地中海贫血与SCA共存对尼日利亚年轻SCA患者的临床和实验室表现均有显著影响。这种基因修饰剂的共存与骨痛危机增加，并可保护镰状腿溃疡的患者。

原始出处：

Oladele S. Olatunya, Dulcineia M. Albuquerque, Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

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    2019-10-25 医者仁心

    #尼日利亚#

    0

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    2020-05-12 lqrandywkz

    #细胞性#

    0

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    2019-06-05 wgx311

    #地中海#

    0

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    2019-06-05 zhang92566

    #镰状细胞性贫血#

    0

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    2019-06-05 1508842480_96220443

    #镰状细胞#

    0

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CRISPR治疗公司和Vertex制药公司近日宣布，美国食品和药品管理局（FDA）已授予CTX001快速通道资格用于治疗镰状细胞病（SCD）。CTX001是针对患有严重血红蛋白病患者的研究性、自体性、CRISPR基因编辑的造血干细胞疗法。