학술논문

A case of hemoglobinopathy Hb Yuda [α2:codon 130 GCT(Ala)→GAT(Asp)] found in very old age triggered by low SpO2 level: Diagnosed from the discrepancy between SaO2 and PaO2 in arterial blood gas analysis / SpO2低値が契機となり超高齢になって判明した異常ヘモグロビン症Hb Yuda[α2:codon 130 GCT(Ala)→GAT(Asp)]の一例―動脈血液ガス分析のSaO2とPaO2の乖離より―
Document Type
Journal Article
Source
医学検査 / Japanese Journal of Medical Technology. 2024, 73(1):161
Subject
Hb Yuda
arterial blood gas analysis
hemoglobinopathy
hypoxia
低酸素親和性
動脈血液ガス分析
異常ヘモグロビン(Hb)症
Language
Japanese
ISSN
0915-8669
2188-5346
Abstract
A 95-year-old female patient suffering from hypertension and chronic renal failure has been visiting the Internal Medicine Department of our hospital since 20XX - 2. She demonstrated hypoxemia, as shown by her percutaneous oxygen saturation of the peripheral artery (SpO2) of 86% on a vital sign check in August 20XX. She had no significant cardiac or pulmonary symptoms. Further arterial blood gas analysis using ABL800 FLEX (Radiometer Co., Ltd., Tokyo) did not yield data on the partial pressure of arterial oxygen (PaO2). Thus, the arterial saturation (SaO2) and PaO2 values were considered to be inappropriately correlated, and hemoglobinopathy was suspected because no significant respiratory or circulatory abnormality leading to hypoxemia was observed. Finally, genetic testing disclosed a low-affinity abnormal variant or Hb Yuda: codon 130 GCT(Ala)→GAT(Asp) at the α2-globin gene. As in this case, when we encounter a low SpO2 value that does not match clinical symptoms, SaO2 should be confirmed by arterial blood gas analysis. If PaO2 is higher than that expected from the SaO2 level, hemoglobinopathy of the low-affinity variant should be suspected.