In:
Journal of the Royal College of Physicians of Edinburgh, SAGE Publications, Vol. 51, No. 3 ( 2021-09), p. 253-256
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.
Type of Medium:
Online Resource
ISSN:
1478-2715
,
2042-8189
DOI:
10.4997/jrcpe.2021.309
Language:
English
Publisher:
SAGE Publications
Publication Date:
2021
detail.hit.zdb_id:
2252067-3
