Rossetti Estefanía, Eandi Eberle Silvia, Aguirre Fernando, Pepe Carolina, Díaz Lilian, Harris Verónica, Ávalos Vanesa
Department of Hematology and Oncology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Laboratory of Hematology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Arch Argent Pediatr. 2023 Oct 1;121(5):e202202801. doi: 10.5546/aap.2022-02801.eng. Epub 2023 Mar 9.
Hemoglobinopathies are genetic disorders that affect the hemoglobin (Hb) molecule. Mutations in the alpha or beta chains altering the Hb tetramer may modify the molecule's oxygen-binding capacity. Hemoglobinopathies with low oxygen affinity may occur with cyanosis and an altered pulse oximetry reading, leading to unnecessary and sometimes invasive tests to rule out cardiovascular and respiratory conditions. In the case report described here, we present an asymptomatic pediatric patient who consulted for desaturated pulse oximetry. Her initial laboratory tests showed normocytic, normochromic anemia. Venous blood gas samples showed an elevated p50. After using extensive diagnostic tools, a variant of Hb with low oxygen affinity was diagnosed: Hb Denver.
血红蛋白病是影响血红蛋白(Hb)分子的遗传性疾病。α或β链中的突变会改变Hb四聚体,从而可能改变分子的氧结合能力。氧亲和力低的血红蛋白病可能伴有发绀和脉搏血氧饱和度读数改变,导致为排除心血管和呼吸系统疾病而进行不必要的、有时甚至是侵入性的检查。在本文所述的病例报告中,我们介绍了一名因脉搏血氧饱和度降低前来咨询的无症状儿科患者。她最初的实验室检查显示为正细胞正色素性贫血。静脉血气样本显示p50升高。在使用了广泛的诊断工具后,诊断出一种氧亲和力低的Hb变体:丹佛血红蛋白。