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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that causes significant morbidity and mortality related to chronic hemolytic anemia, vaso-occlusion, and resultant end-organ damage. Tobacco smoke exposure (TSE) through secondhand smoke exposure in people with SCD of all ages and through primary smoking in adolescents and adults is associated with significantly increased morbidity, with increased rates of emergency department visits and hospitalizations for painful vaso-occlusive crises and acute chest syndrome (ACS). Secondhand smoke is also associated with pulmonary function abnormalities in children with SCD who are already at risk for pulmonary function abnormalities on the basis of SCD. TSE is emerging as one of the few modifiable risk factors of SCD. This review discusses the current state of the evidence with respect to TSE and SCD morbidity, discusses potential mechanisms, and highlights current gaps in the evidence and future research directions.
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PMID:Secondhand Smoke Is an Important Modifiable Risk Factor in Sickle Cell Disease: A Review of the Current Literature and Areas for Future Research. 2784 54

Sickle cell anemia (SCA) and hemoglobin SC (HbSC) disease are the two most common forms of sickle cell disease (SCD), a frequent hemoglobinopathy which exhibits a highly variable clinical course. Although high levels of microparticles (MPs) have been consistently reported in SCA and evidence of their harmful impact on the SCA complication occurrences have been provided, no data on MP pattern in HbSC patients has been reported so far. In this study, we determined and compared the MP patterns of 84 HbSC and 96 SCA children, all at steady-state, using flow cytometry. Most of circulating MPs were derived from platelets (PLTs) and red blood cells (RBCs) in the two SCD syndromes. Moreover, we showed that HbSC patients exhibited lower blood concentration of total MPs compared to SCA patients, resulting mainly from a decrease of MP levels originated from RBCs and to a lesser extent from PLTs. We did not detect any association between blood MP concentrations and the occurrence of painful vaso-occlusive crises, acute chest syndrome and pulmonary hypertension in both patient groups. We also demonstrated for the first time, that whatever the considered genotype, RBC-derived MPs exhibited higher externalized phosphatidylserine level and were larger than PLT-derived MPs.
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PMID:Differences of microparticle patterns between sickle cell anemia and hemoglobin SC patients. 2848 23

Sickle cell disease (SCD) is a hereditary hemoglobinopathy resulting in sickling hemoglobin. Acute chest syndrome (ACS) is a serious complication of SCD and an important cause of morbidity and mortality. Management of ACS is complex and may necessitate mechanical ventilation and veno-venous extracorporeal membrane oxygenation (VV-ECMO) therapy in the more severe cases. We present herein the case of a young female adult (19 y.o.) with SCD who developed severe respiratory failure due to ACS occurring twice within 15 months and treated by VV-ECMO. We describe the management of ACS with VV-ECMO using two different approaches, namely with and without mechanical ventilation.
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PMID:Spontaneous breathing during extracorporeal membrane oxygenation treatment of sickle cell disease acute chest syndrome. 3151 19

With the advent of hydroxyurea, the sickle cell population has been enjoying a prolonged life span as compared to the pre-hydroxyurea era. Traditionally, acute complications of sickle cell disease includes acute chest syndrome, MI and stroke. In this report we present a case of an elderly man with sickle cell disease who presented with intrahepatic cholestasis (SCIC); a rather rare and fatal complication of sickle cell hemoglobinopathy. The patient presented with jaundice and elevated bilirubin up to 53, his hospital course was complicated by coagulopathy and encephalopathy, and expired on day 43 of presentation after failing multiple therapeutic interventions including exchange transfusion. In this report, we will provide literature review and discuss the underlying pathophysiologic mechanisms of intrahepatic cholestasis in the sickle cell population highlighting the need for immediate recognition and institution of therapy for this fatal complication of sickle cell disease, particularly in elderly populations with low metabolic reserve.
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PMID:Intrahepatic Cholestasis in a Sickle Cell Patient Unresponsive to Exchange Blood Transfusion. 3153 2

Hemoglobinopathies are genetic disorders that lead to abnormal structure of the hemoglobin molecule. Genetic mutation results in major changes in the hemoglobin structure, with dysfunctions related to changes in shape, oxygen-carrying capacity, or ability to clump together, causing obstruction of the vascular system. Sickle cell disease and beta thalassemia major are two common hemoglobinopathies worldwide. However, they occur infrequently in the United States, with approximately 101,000 individuals affected. Sickle cell disease phenotypically is exhibited in patients with two hemoglobin S genes but the disease broadly includes many other hemoglobin abnormalities. Complications vary according to genotype and include acute pain crisis, vasoocclusive events, and acute chest syndrome. Blood transfusions are a mainstay of therapy. The two main categories of thalassemias are beta thalassemias and alpha thalassemias. Symptoms range from severe to none. The severity depends on how many genes are affected. Patients with the most severe form of beta thalassemia (ie, two affected genes) are categorized as having thalassemia major or transfusion-dependent disease. The primary treatment for beta thalassemia major currently is transfusions, although stem cell transplantation is a potentially curative option.
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PMID:Hematologic Conditions: Common Hemoglobinopathies. 3161 65

Sickle cell disease (SCD) is an inherited hemoglobinopathy that is caused by the presence of abnormal hemoglobin S (HbS) in red blood cells, leading to alterations in red cell properties and shape, as the result of HbS dexoygenation and subsequent polymerization. SCD pathophysiology is characterized by chronic inflammatory processes, triggered by hemolytic and vaso-occlusive events, which lead to the varied complications, organ damage and elevated mortality seen in individuals with the disease. In association with activation of the endothelium and leukocytes, hemostatic alterations and thrombotic events are well-documented in SCD. Here we discuss the role for inflammatory pathways in modulating coagulation and inducing platelet activation in SCD, due to tissue factor activation, adhesion molecule expression, inflammatory mediator production and the induction of innate immune responses, amongst other mechanisms. Thromboinflammatory pathways may play a significant role in some of the major complications of SCD, such as stroke, venous thromboembolism and possibly acute chest syndrome, besides exacerbating the chronic inflammation and cellular interactions that trigger vaso-occlusion, ischemia-reperfusion processes, and eventually organ damage.
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PMID:Thromboinflammatory mechanisms in sickle cell disease - challenging the hemostatic balance. 3243 27

Hemoglobin D is a relatively rare disease first reported in 1951. We present the first reported case of Hemoglobin DC disease. This is a case of a Hemoglobinopathy with DC disease in a woman with a previous diagnosis of Hemoglobin SC disease. A 19-year-old woman presented to the Adult Hematology clinic at a tertiary care hospital in Northwest Louisiana for transition of care from Pediatric Hematology for a diagnosis of Hemoglobin SC disease diagnosed at the age 4. Historical data suggested no avascular necrosis, acute chest syndrome, and very few episodes of pain crisis. She has never taken hydroxyurea. Laboratory work showed persistently normal hemoglobin and white blood cell counts. All sickle cell preparations in the past were negative. Computerized tomography scan of the abdomen was reviewed and showed a spleen grossly normal in size and appearance. Given the incongruent clinical picture for sickle cell disease, repeat hemoglobinopathy evaluation with Capillary electrophoresis and confirmatory acid electrophoresis (to differentiate hemoglobins that co-migrate with Hemoglobin S) showed a probable double heterozygote for Hemoglobin D and C with suspected coexistent alpha thalassemia minor based on red blood cell indices. This case confirms the importance of the required confirmatory method to ensure a correct diagnosis since a misdiagnosis can lead to numerous adverse clinical or psychological effects for patients.
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PMID:The curious case of hemoglobin DC disease masquerading as sickle cell anemia. 3249 6

Sickle cell disease (SCD) is an inherited hemoglobinopathy that is caused by the presence of abnormal hemoglobin S (HbS) in red blood cells, leading to alterations in red cell properties and shape, as the result of HbS dexoygenation and subsequent polymerization. SCD pathophysiology is characterized by chronic inflammatory processes, triggered by hemolytic and vaso-occlusive events, which lead to the varied complications, organ damage and elevated mortality seen in individuals with the disease. In association with activation of the endothelium and leukocytes, hemostatic alterations and thrombotic events are well-documented in SCD. Here we discuss the role for inflammatory pathways in modulating coagulation and inducing platelet activation in SCD, due to tissue factor activation, adhesion molecule expression, inflammatory mediator production and the induction of innate immune responses, amongst other mechanisms. Thromboinflammatory pathways may play a significant role in some of the major complications of SCD, such as stroke, venous thromboembolism and possibly acute chest syndrome, besides exacerbating the chronic inflammation and cellular interactions that trigger vaso-occlusion, ischemia-reperfusion processes, and eventually organ damage.
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PMID:Thromboinflammatory mechanisms in sickle cell disease - challenging the hemostatic balance. 3305 78


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