Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Altitude-related illnesses are a frequent cause of morbidity and occasional mortality in travelers to high altitudes in the United States and throughout the world. The primary altitude illnesses are acute mountain sickness, high-altitude pulmonary edema, and high-altitude cerebral edema. The pathogenesis of these syndromes remains unclear despite considerable research. Altitude also has potential deleterious effects on common medical conditions including coronary artery disease, pulmonary disease, hemoglobinopathies, and pregnancy. Most of these problems are primarily preventable with appropriate information before travel. Education should include information about rate of ascent, diet, alcohol intake, physical activity, and preventive medications, including acetazolamide, nifedipine, and dexamethasone in selected circumstances.
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PMID:Altitude-related illnesses. 978 51

Methemoglobinemia, an uncommon hemoglobinopathy, affects oxygen transport, causing tissue hypoxia. In the perioperative period, methemoglobinemia is often overlooked as a cause of low oxygen saturation, often mistaken for the more common causes of hypoxia, such as atelectasis, pulmonary edema, or pulmonary embolus, among other causes of respiratory failure. Most cases of methemoglobinemia in the perioperative period are precipitated by local anesthetics, especially benzocaine. Dapsone, a sulfone antibiotic, is used for prophylaxis against Pneumocystis carinii pneumonia in immunosuppressed patients. It is commonly used in organ transplant patients, especially those intolerant to sulfa. With the expansion of organ transplantation and improved long-term survival of these patients, presentation of status post organ transplant patients for surgery will inevitably increase. We report a case of dapsone-induced methemoglobinemia observed in a status post small bowel transplant patient in the postanesthesia care unit.
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PMID:Presentation of dapsone-induced methemoglobinemia in a patient status post small bowel transplant. 1629 61

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 role. Scientific literature has pointed out two potential pathophysiological mechanisms: i) severe acute respiratory syndrome-coronavirus-2 (SARS-CoV- 2) interaction with hemoglobin molecule, through CD147, CD26 and other receptors located on erythrocyte and/or blood cell precursors; ii) hepcidin-mimetic action of a viral spike protein, inducing ferroportin blockage. In this translational medicinebased narrative review, the following pathologic metabolic pathways, deriving from hemoglobin denaturation and iron metabolism dysregulation, are highlighted: i) decrease of functioning hemoglobin quote; ii) iron overload in cell/tissue (hyperferritinemia); iii) release of free toxic circulating heme; iv) hypoxemia and systemic hypoxia; v) reduction of nitric oxide; vi) coagulation activation; vii) ferroptosis with oxidative stress and lipoperoxidation; viii) mitochondrial degeneration and apoptosis. A few clinical syndromes may follow, such as pulmonary edema based on arterial vasoconstriction and altered alveolo-capillary barrier, sideroblastic-like anemia, endotheliitis, vasospastic acrosyndrome, and arterio- venous thromboembolism. We speculated that in COVID-19, beyond the classical pulmonary immune-inflammation view, the occurrence of an oxygen-deprived blood disease, with iron metabolism dysregulation, should be taken in consideration. A more comprehensive diagnostic/therapeutic approach to COVID-19 is proposed, including potential adjuvant interventions aimed at improving hemoglobin dysfunction, iron over-deposit and generalized hypoxic state.
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PMID:COVID-19: hemoglobin, iron, and hypoxia beyond inflammation. A narrative review. 3250 58