Coinherited Hemoglobin Lansing-Ramathibodi/Southeast Asian Deletional α0-thalassemia and Hemoglobin E Causing Falsely Low Oxygen Saturation on Pulse Oximetry

Kornkamol Chouymankong; Nattawan Arkarattanakul; Kanittha Mankhemthong; Nisarat Sirinam; Arunee Phusua; Kanda Fanhchaksai; Pimlak Charoenkwan

Authors

Kornkamol Chouymankong Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Thailand
Nattawan Arkarattanakul Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Thailand
Kanittha Mankhemthong Department of Pediatrics, Nakornping Hospital, Thailand
Nisarat Sirinam Department of Pediatrics, Nakornping Hospital, Thailand
Arunee Phusua Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Thailand
Kanda Fanhchaksai Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Thailand
Pimlak Charoenkwan Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Thailand

Keywords:

alpha-thalassemia, coinheritance, hemoglobin Lansing- Ramathibodi, low SpO2, oxygen saturation

Abstract

Hemoglobin (Hb) variants resulting from mutations in globin genes and leading to qualitative abnormalities of globin proteins can result in a spectrum of clinical presentations. Herein we describe a case of a 10-year-old boy with an Hb variant, Hb Lansing-Ramathibodi (HBA1:c.264C>G, codon 87 His>Gln), who was incidentally found to have low pulse oximetry oxygen saturation readings (low SpO₂). Laboratory investigations revealed mild microcytic anemia. Arterial blood gas showed normal partial pressure of oxygen (PaO₂) and arterial oxygen saturation (SpO₂) values, indicating an oxygen saturation gap. Subsequent Hb analysis identified an abnormal peak, prompting further molecular studies which confirmed the coinheritance of Hb Lansing-Ramathibodi, Southeast Asian deletional ⁰-thalassemia and the Hb E trait. The patient’s mother, carrying the Hb Lansing-Ramathibodi and Hb E traits without Southeast Asian deletional ⁰-thalassemia, was asymptomatic. This case underscores the importance of identifying and characterizing rare Hb variants presenting with an oxygen saturation gap for informed clinical management and genetic counseling.

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