RESUMO
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.
Las hemoglobinopatías son trastornos genéticos que afectan a la molécula de hemoglobina (Hb). Las mutaciones en las cadenas a o b que alteran el tetrámero de Hb pueden modificar la capacidad de la molécula para unirse al oxígeno. Las hemoglobinopatías con baja afinidad al oxígeno pueden presentarse con cianosis y una lectura alterada de la oximetría de pulso, lo que lleva a pruebas innecesarias y, a veces, invasivas para descartar afecciones cardiovasculares y respiratorias. En el siguiente reporte de caso, presentamos a una paciente pediátrica, asintomática, que se presentó a la consulta por detección de desaturación en oximetría de pulso. Las pruebas de laboratorio iniciales mostraron una anemia normocítica, normocrómica. Las muestras de gas venoso demostraron una p50 elevada. Después de extensas herramientas de diagnóstico, se diagnosticó una variante de Hb con baja afinidad al oxígeno, Hb Denver.
Assuntos
Anemia , Hemoglobinopatias , Hemoglobinas Anormais , Humanos , Criança , Feminino , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/análise , Hemoglobinas Anormais/química , Oximetria , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , OxigênioRESUMO
Background: While cancer survival among Aboriginal and Torres Strait Islander peoples has improved over time, they continue to experience poorer cancer survival than other Australians. Key drivers of these disparities are not well understood. This systematic review aimed to summarise existing evidence on Aboriginal and Torres Strait Islander cancer survival disparities and identify influential factors and potential solutions. Methods: In accordance with PRISMA guidelines, multiple databases were systematically searched for English language peer-reviewed articles on cancer survival by Aboriginal and Torres Strait Islander status published from 1/1/2008 to 4/05/2022. Observational studies presenting adjusted survival measures in relation to potential causal factors for disparities were included. Articles were screened independently by two authors. Included studies were critically assessed using Joanna Briggs Institute tools. Results: Thirty population-based and predominantly state-level studies were included. A consistent pattern of poorer unadjusted cancer survival for Aboriginal and Torres Strait Islander peoples was evident. Studies varied widely in the covariates adjusted for including a combination of socio-demographics, cancer stage, comorbidities, and treatment. Potential contributions of these factors varied by cancer type. For lung and female breast cancer, adjusting for treatment and comorbidities reduced the survival disparity, which, while still elevated was no longer statistically significant. This pattern was also evident for cervical cancer after adjustment for stage and treatment. However, most studies for all cancers combined, or colorectal cancer, reported that unexplained survival disparities remained after adjusting for various combinations of covariates. Conclusions: While some of the poorer survival faced by Aboriginal and Torres Strait Islander cancer patients can be explained, substantial disparities likely to be related to Aboriginal determinants, remain. It is imperative that future research consider innovative study designs and strength-based approaches to better understand cancer survival for Aboriginal and Torres Strait Islander peoples and to inform evidence-based action.
RESUMO
Las hemoglobinopatías son trastornos genéticos que afectan a la molécula de hemoglobina (Hb). Las mutaciones en las cadenas a o b que alteran el tetrámero de Hb pueden modificar la capacidad de la molécula para unirse al oxígeno. Las hemoglobinopatías con baja afinidad al oxígeno pueden presentarse con cianosis y una lectura alterada de la oximetría de pulso, lo que lleva a pruebas innecesarias y, a veces, invasivas para descartar afecciones cardiovasculares y respiratorias. En el siguiente reporte de caso, presentamos a una paciente pediátrica, asintomática, que se presentó a la consulta por detección de desaturación en oximetría de pulso. Las pruebas de laboratorio iniciales mostraron una anemia normocítica, normocrómica. Las muestras de gas venoso demostraron una p50 elevada. Después de extensas herramientas de diagnóstico, se diagnosticó una variante de Hb con baja afinidad al oxígeno, Hb Denver.
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.