FIRST IDENTIFICATION OF HEMOGLOBIN LANSINGRAMATHIBODI [ α87(F8)His → Gln; CAC > CAG (HBA1: c.264C > G)] IN A THAI FAMILY WITH SPURIOUS HYPOXEMIA.
We report, for the first time, hemoglobin (Hb) Lansing-Ramathibodi
[α87(F8)His → Gln; CAC>CAG (HBA1: c.264C>G)] in four members of a Thai
family presented with low measured oxygen saturation by pulse oximetry (SpO2),
with discrepancy between low SpO2 and normal calculated oxygen saturation by
arterial blood gas analysis, and no cyanosis or methemoglobinemia. The causative
mutation is located in HBA1 whereas in previous reports of Hb Lansing
the mutation is on HBA2, including that in a Japanese individual. The index
and a male sibling also co-inherited Hb Pakse, a non-deletional α-thalassemia 2,
resulting in mild reticulocytosis. Correct Hb identification is crucial for genetic
counselling and, thereby, avoiding unnecessary investigation and treatment for
spurious hypoxemia.
PMID: 29620819 [PubMed - in process]
Source: Southeast Asian Journal of Tropical Medicine and Public Health - Category: Tropical Medicine Tags: Southeast Asian J Trop Med Public Health Source Type: research