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

Lai Chee Chow1, Soo Huan Puah2, Xun Ting Tiong2

  • 1Haematology Unit, Sarawak General Hospital, Jalan Hospital, 93586, Kuching, Sarawak, Malaysia,

The Journal of the Royal College of Physicians of Edinburgh
|September 16, 2021
PubMed

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.

Keywords:
COVID-19Hb Cheverlycase serieslow oxygen affinity variant haemoglobinlow oxygen saturation

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