hemoglobinopathies/hypoxia

Funipuncture offers direct access to the fetal circulation. The blood gas and acid-base status of the fetus can be studied, and fetal hypoxia and acidosis can be diagnosed directly. To establish normal ranges of fetal blood gas and acid-base status, we analyzed umbilical venous blood samples

Pulse oximetry is routinely used in the newborn nursery for clinical monitoring and to detect critical congenital heart disease. The differential diagnoses for reduced peripheral oxygen saturation in an infant include congenital heart disease, respiratory distress syndrome, transient tachypnea of

Patients with the nondeletion genotype of hemoglobinopathy H (HbH or beta4) disease have higher proportions of HbH and more severe tissue hypoxia than patients with the deletion genotype. Because these patients' red blood cells (RBCs) contain mainly two Hb species, HbH and HbA, the high proportion

The working hypothesis of this study was that chronically increased tissue oxygenation would facilitate respiratory endurance to chemical stimuli. We investigated the ventilatory responses to hypoxia and hypercapnia before and after carotid chemodenervation in the anesthetized, spontaneously

Spurious hypoglycemia and hyperkalemia were found in a patient with chronic hemolytic anemia due to an unidentified hemoglobinopathy. The patient had massive reticulocytosis, and many nucleated red blood cells were present in his blood smear. Hypoxemia was induced in vitro. No correlation was found

To evaluate the degree of tissue hypoxia in patients with hemoglobinopathy H disease, whole blood oxygen affinity was estimated and analyzed in 33 patients. Twenty patients with iron deficiency anemia, matched for degree of anemia, served as controls. The results were as follows: Whole blood oxygen

There are contradictory reports about the effects of obstructive sleep apnea (OSA) on clinical vaso-occlusive events in sickle hemoglobinopathies. The discourse has focused on the possible effects of OSA-associated hypoxemia on hemoglobin S (HbS) polymerization. Advances in understanding the

We describe, in Ethiopia, a third successful pattern of human adaptation to high-altitude hypoxia that contrasts with both the Andean "classic" (erythrocytosis with arterial hypoxemia) and the more recently identified Tibetan (normal venous hemoglobin concentration with arterial hypoxemia) patterns.

Sickle cell disease (SCD) is caused by genetic defects in the β-globin chain. SCD is a frequently inherited blood disorder, and sickle cell anemia is a common type of hemoglobinopathy. During anemia, the hypoxic response via the transcription factor hypoxia-inducible factor (HIF)-2α is highly

Coronavirus disease-19 (COVID-19) has been regarded as an infective-inflammatory disease, which affects mainly lungs. More recently, a multi-organ involvement has been highlighted, with different pathways of injury. A hemoglobinopathy, hypoxia and cell iron overload might have a possible additional

Sickle cell disease and thalassemia are common hereditary blood disorders associated with increased systemic inflammation, tissue hypoxia, endothelial dysfunction and end-organ damage, the latter accounting for the substantial morbidity and abbreviated lifespan associated with these conditions.

Renal medullary carcinoma (RMC) is a highly aggressive malignancy that predominantly afflicts young adults and adolescents with sickle hemoglobinopathies. It is characterized by complete loss of expression of the chromatin remodeler and tumor suppressor SMARCB1 Despite therapy, the outcomes of

The various forms of sickle cell disease share the common feature of an abnormal globin chain that, under certain conditions such as hypoxia, results in the sickling of red blood cells and obstruction of blood vessels. The ophthalmic manifestations of sickle cell disease are present in various