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一家三口携血红蛋白 Cheverly:稳定型患者低血氧饱和度。

A family of three with haemoglobin Cheverly: low oxygen saturation in stable patients.

机构信息

Haematology Unit, Sarawak General Hospital, Jalan Hospital, 93586, Kuching, Sarawak, Malaysia, Email:

Sarawak General Hospital, Jalan Hospital, 93586, Kuching, Sarawak, Malaysia.

出版信息

J R Coll Physicians Edinb. 2021 Sep;51(3):253-256. doi: 10.4997/JRCPE.2021.309.

Abstract

Haemoglobin (Hb) Cheverly is a rare, low oxygen affinity haemoglobinopathy. It is a result of point mutation at the 45 codon of the beta globin genes that leads to substitution of phenylalanine by serine. It is characterised by spuriously low peripheral oxygen saturation with normal arterial oxygen saturation. We describe a family of three with Hb Cheverly in Sarawak General Hospital, Malaysia. It was discovered through incidental finding during hospital admission for unrelated complaints. Laboratory testing revealed abnormal haemoglobin detected at the C window of the high performance liquid chromatography. Subsequent DNA analysis detected replacement of thymidine by cytosine at the beta globin genes. Hb Cheverly may or may not have clinical significance as most of the patients live a normal life; however, it is crucial for us to make early diagnosis to prevent unnecessary extensive investigations for hypoxaemia detected via pulse oximetry, especially in the midst of COVID-19 pandemic.

摘要

血红蛋白 Cheverly 是一种罕见的低氧亲和力血红蛋白病。它是由于β珠蛋白基因 45 密码子的点突变导致苯丙氨酸被丝氨酸取代所致。其特征是外周氧饱和度假性降低,而动脉氧饱和度正常。我们在马来西亚砂拉越总医院描述了一个家族中有三人患有血红蛋白 Cheverly。这是在因无关疾病住院期间偶然发现的。实验室检测显示高效液相色谱的 C 窗检测到异常血红蛋白。随后的 DNA 分析检测到β珠蛋白基因的胸腺嘧啶被胞嘧啶取代。血红蛋白 Cheverly 可能具有或不具有临床意义,因为大多数患者过着正常的生活;然而,早期诊断至关重要,以防止通过脉搏血氧仪检测到的低氧血症进行不必要的广泛检查,特别是在 COVID-19 大流行期间。

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