Chatzidavid, S.; Flevari, P.; Tombrou, I.; Anastasiadis, G.; (INHERENT), M.D.O.I.H.R.N. Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology. Int. J. Mol. Sci.2024, 25, 4792.
Chatzidavid, S.; Flevari, P.; Tombrou, I.; Anastasiadis, G.; (INHERENT), M.D.O.I.H.R.N. Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology. Int. J. Mol. Sci. 2024, 25, 4792.
Chatzidavid, S.; Flevari, P.; Tombrou, I.; Anastasiadis, G.; (INHERENT), M.D.O.I.H.R.N. Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology. Int. J. Mol. Sci.2024, 25, 4792.
Chatzidavid, S.; Flevari, P.; Tombrou, I.; Anastasiadis, G.; (INHERENT), M.D.O.I.H.R.N. Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology. Int. J. Mol. Sci. 2024, 25, 4792.
Abstract
Pulmonary hypertension (PH) is a progressive and potentially fatal complication of sickle cell disease (SCD) affecting 6-10% of adult SCD patients. Various mechanisms and theories have been evaluated to explain the pathophysiology of the disease. However, questions remain, particularly regarding the clinical heterogeneity of the disease in terms of symptoms, complications, and survival. Beyond the classical mechanisms that have been thoroughly investigated and include hemolysis, nitric oxide availability, endothelial disorders, thrombosis, and left heart failure, attention is focused nowadays on the potential role of the genes involved in such processes. Potential candidate genes are investigated through next-generation sequencing, with the TGF-β pathway being the initial target. This field of research may also provide novel targets for pharmacologic agents in the future as is already the case with idiopathic PH. The collection and processing of data and samples from multiple centers can yield safe results that will allow a better understanding of SCD-related PH as a part of the disease’s clinical spectrum. The following review attempts to capture the most recent findings of studies on gene polymorphisms that have been associated with PH in SCD patients.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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