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Pulmonary complications of hemoglobinopathies Vij R; Machado RFChest 2010[Oct]; 138 (4): 973-83Hemoglobinopathies are diseases caused by genetic mutations that result in abnormal, dysfunctional hemoglobin molecules or lower levels of normal hemoglobin molecules. The most common hemoglobinopathies are sickle cell disease (SCD) and the thalassemias. In SCD, an abnormal hemoglobin alters the erythrocyte, causing a chronic hemolytic anemia, which can lead to pulmonary parenchymal damage and impaired vascular function. Pulmonary complications of SCD include the acute chest syndrome (ACS), reactive airways disease, pulmonary hypertension (PH), and pulmonary fibrosis. Episodes of ACS and the development of PH both increase the risk of death in patients with SCD. Both alpha and beta thalassemia are characterized by impaired production of hemoglobin subunits, and severity of disease varies widely. Although screening studies suggest that PH is a common complication for patients with thalassemia, its impact on survival is unknown. Understanding the pathogenesis, diagnostic options, and prevention and treatment strategies for such complications is critical for clinicians who care for these patients. In this review, we discuss the mechanisms and clinical presentation of pulmonary complications associated with hemoglobinopathies, with a focus on recent advances in pathogenesis and treatment.|Acute Disease[MESH]|Anemia, Sickle Cell/*complications/genetics/therapy[MESH]|Asthma/etiology/therapy[MESH]|Humans[MESH]|Hypertension, Pulmonary/etiology/therapy[MESH]|Lung Diseases/*etiology/therapy[MESH]|Mutation[MESH]|Thalassemia/*complications/genetics/therapy[MESH] |