Demystifying Medicine - Sickle Cell Anemia: Treatable and/or Curable?

Demystifying Medicine Lecture Series Although the fundamental molecular pathophysiology of sickle cell anemia was elucidated in studies of this genetic disease starting more than 70 years ago, it is only in about the last two decades that this knowledge has led to specific therapies. Indeed in the last decade serious attention has turned to the possibility of a genetic cure of this condition. Have we finally cured sickle cell anemia? Not quite, but we may be on the cusp. Really. In a dozen clinical trials planned or underway, some at the NIH Clinical Center, researchers are applying gene therapy to cure this well-studied genetic disorder that causes agonizing pain attacks, stroke, and early death. Sickle cell anemia (SCA) is the most common manifestation of sickle cell disease (SCD), which is caused by a single gene mutation on chromosome 11 inherited from both of one's parents. The mutation results in the periodic creation of sickle hemoglobin (HbS), as opposed to normal hemoglobin (HbA). The HbS distorts the shape of round blood cell into a sickle, which impedes the flow of cells, particularly in narrow vessels, and prevents oxygen from reaching tissues. More than 4.4 million people have SCD worldwide, including about 100,000 in the United States, mostly of African descent. Treatment is complicated by inadequate and inequitable access to health care. Our first speaker is Alan Schechter, chief of NIDDK's Molecular Medicine Branch. Dr. Schechter will discuss an overview of th...
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video

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We describe the most highly recommended generic and disease-specific PRO tools in SCD and discuss the challenges of incorporating them in clinical practice. EXPERT OPINION: PRO measures are essential to incorporate into SCD clinical trials either as primary or secondary outcomes. The use of PRO measures in SCD facilitates a patient-centered approach, which is likely to lead to improved outcomes. Significant challenges remain in adapting PRO tools to routine clinical use and in developing countries. PMID: 33034214 [PubMed - as supplied by publisher]
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Authors: Musio F Abstract INTRODUCTION: Anemia has and will continue to be a central theme in medicine particularly as clinicians are treating a burgeoning population of complex multi-organ system processes. As a result of multiple randomized controlled trials (RCTs), meta-analyses, and societal recommendations overly restrictive paradigms and under-administration of erythropoiesis stimulating agents (ESAs) have likely been followed by clinicians among all specialties. AREAS COVERED: A review of anemia in the context of chronic kidney disease, hematologic malignancies and cancer is presented with focus on the e...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Publication date: Available online 9 October 2020Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Klaudia Kulczynska-Figurny, James J. Bieker, Miroslawa Siatecka
Source: Mutation Research Reviews in Mutation Research - Category: Genetics & Stem Cells Source Type: research
Authors: Sabet Sarvestani F, Azarpira N Abstract Heart and cerebral infarctions, as two important ischemic diseases, lead to the death of tissues due to inadequate blood supply and high mortality worldwide. These statuses are started via blockage of vessels and depletion of oxygen and nutrients which affected these areas. After reperfusion and restoration of oxygen supply, more severe injury was mediated by multifaceted cascades of inflammation and oxidative stress. microRNAs (miRNAs) as the regulator of biological and pathological pathways can adjust these conditions by interaction with their targets. Also, miRNAs...
Source: Immunological Investigations - Category: Allergy & Immunology Tags: Immunol Invest Source Type: research
Currently in fellowship doing bread/butter procedures (MBB, epidurals, PNB, few SCS/PNS trials, etc.) and just interviewed at a private practice spot where they do a lot of procedures that I will have not done any training in prior to graduating (e.g. IT pump, SI fusion, Vertiflex, Kypho, MILD, Discectomy, lots of SCS/PNS trials etc) and significant amount of "OR pain procedures" at a very busy practice seeing 30-40 pts/day - how many of you are commonly performing these procedures and are... private practice concern
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Abstract Trace metals concentrations of 25 elements were determined for 22 subcomponents of biodegradable and non-biodegradable waste samples representing the United States municipal solid waste (MSW) stream collected during three separate waste sorts. The subcomponent trace metal concentrations and estimated composition results were used to predict trace metal concentrations present in the overall MSW stream along with MSW compost and waste to energy (WTE) ash, which were compared to health-based standards (i.e., US EPA regional screening levels) and to values previously reported in the literature. These estimate...
Source: Chemosphere - Category: Chemistry Authors: Tags: Chemosphere Source Type: research
CONCLUSIONS: There is no evidence for managing adults, or children who do not have HbSS sickle cell disease. In children who are at higher risk of stroke and have not had previous long-term transfusions, there is moderate quality evidence that long-term red cell transfusions reduce the risk of stroke, and low quality evidence they also reduce the risk of other sickle cell disease-related complications. In primary and secondary prevention of stroke there is low quality evidence that switching to hydroxyurea with phlebotomy has little or no effect on the liver iron concentration. In secondary prevention of stroke there is lo...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
In sickle cell disease (SCD) polymerization of hemoglobin S under deoxygenated conditions causes vaso-occlusion, which can manifest as acute pain crisis and progressive bone/organ damage. Molecular studies have attributed vaso-occlusion to elevated vascular adhesion and inflammatory responses, whereas the genetic regulation has only recently been assessed.Genomic DNA isolated from peripheral blood mononuclear cells (PBMCs) was hybridized to Illumina Human 610-Quad SNP array for the PUSH and Walk-PHaSST cohorts and to Affrymetrix SNP 6.0 array for the Howard SCD expression cohort. Single nucleotide polymorphisms (SNPs) for ...
Source: Blood - Category: Hematology Authors: Tags: 113. Hemoglobinopathies, Excluding Thalassemia-Basic and Translational Science: Poster I Source Type: research
ConclusionsFVL was more prevalent among SS patients compared to controls and it was associated with higher incidence of disease complications among SCD patients.
Source: BMC Hematology - Category: Hematology Source Type: research
CONCLUSIONS: There is no evidence for managing adults, or children who do not have HbSS sickle cell disease.In children who are at higher risk of stroke and have not had previous long-term transfusions, there is moderate quality evidence that long-term red cell transfusions reduce the risk of stroke, and low quality evidence they also reduce the risk of other sickle cell disease-related complications.In primary and secondary prevention of stroke there is low quality evidence that switching to hydroxyurea with phlebotomy has little or no effect on the liver iron concentration.In secondary prevention of stroke there is low-q...
Source: Cochrane Database of Systematic Reviews - Category: Journals (General) Authors: Tags: Cochrane Database Syst Rev Source Type: research
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