Hydroxyurea (hydroxycarbamide) for transfusion-dependent β-thalassaemia.

CONCLUSIONS: Currently, there is no high-quality evidence to support or challenge the continued use of hydroxyurea for managing people with transfusion-dependent β-thalassaemia. Multicentre, randomised controlled trials (compared to placebo or other available treatment, i.e. blood transfusion and iron chelation) are needed in order to assess the efficacy and safety of hydroxyurea for reducing the need for blood transfusion, for maintaining or improving mean haemoglobin levels, as well as for determining its cost-effectiveness. PMID: 30882896 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research

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Hardy-Weinberg Equilibrium (HWE) is used to estimate the number of homozygous and heterozygous variant carriers based on its allele frequency in populations that are not evolving. Deviations from HWE in large population databases have been used to detect genotyping errors, which can result in extreme heterozygote excess (HetExc). However, HetExc might also be a sign of natural selection since recessive disease causing variants should occur less frequently in a homozygous state in the population, but may reach high allele frequency in a heterozygous state, especially if they are advantageous. We developed a filtering strate...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Plastic bronchitis is a potentially fatal disorder characterized by the exudation of proteinaceous material and cells in the airways that leads to branching cast formation, which can be expectorated or lead to asphyxiation. Plastic bronchitis can appear as a complication after single-ventricle palliation. Other causes of plastic bronchitis that have been described include cystic fibrosis, sickle-cell anemia, asthma, and lymphangiomatosis. The underlying pathophysiology of plastic bronchitis seems to be abnormal pulmonary lymphatic perfusion, and the preferred treatment is embolization of the abnormal pulmonary lymphatic vessels (1).
Source: Journal of Vascular and Interventional Radiology : JVIR - Category: Radiology Authors: Tags: Letter to the Editor Source Type: research
‘Prime editing’ more precise than Crispr-Cas9, but still needs time before use on humansScientists have raised fresh hopes for treating people with genetic disorders by inventing a powerful new molecular tool that, in principle, can correct the vast majority of mutations that cause human genetic diseases.The procedure, named “prime editing”, can mend about 89% of the 75,000 or so harmful mutations known to mangle the human genome and lead to conditions such as cystic fibrosis, sickle cell anaemia, and a nerve-destroying illness called Tay-Sachs disease.Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Gene editing Genetics Biology Science Source Type: news
Funding Opportunity RFA-HD-20-021 from the NIH Guide for Grants and Contracts. The purpose of this RFA is to encourage studies on reproductive health, fertility and fertility preservation/treatment options in patients born with a serious chronic condition who can now expect to survive into adulthood healthy enough to consider their reproductive health and fertility options. The underlying pathophysiology of diseases such as sickle cell anemia, thalassemia, and cystic fibrosis, among others, and/or the cumulative effects of their treatment, can compromise reproductive health. This RFA encourages teams of scientists with ex...
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
Abstract Sickle cell disease afflicts millions of people worldwide and approximately 100,000 Americans. Complications are myriad and arise as a result of complex pathological pathways 'downstream' to a point mutation in DNA, and include red blood cell membrane damage, inflammation, chronic hemolytic anemia with episodic vaso-occlusion, ischemia and pain, and ultimately risk of cumulative organ damage with reduced patient lifespan. The National Heart, Lung, and Blood Institute's 2014 evidence-based guideline for sickle cell disease -management states additional research is needed before investigational curative the...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
There is a question about what role race and wealth play in how much attention and funding the disease receives.
Source: NYT - Category: American Health Authors: Tags: Sickle Cell Anemia Preventive Medicine Blacks Cystic Fibrosis Discrimination Source Type: news
CONCLUSIONS: It is expected that salmonella vaccines may be useful in people with sickle cell disease, especially in resource-poor settings where the majority of those who suffer from the condition are found. Unfortunately, there are no randomized controlled trials on the efficacy and safety of the different types of salmonella vaccines in people with sickle cell disease. We conclude that there is a need for a well-designed, adequately-powered, randomized controlled trial to assess the benefits and risks of the different types of salmonella vaccines as a means of improving survival and decreasing mortality from salmonella ...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
This report would examine developments at the state and federal-level, court cases, and current views from stakeholders. Policy Questions Which states have PAS laws and what do those laws provide? What protections against abuse of PAS?What have the Supreme Court and lower courts held regarding individuals’ rights under PAS laws? The laws themselves?Is there evidence that persons with disabilities are being denied treatment by insurance companies but offered PAS instead, as NCD predicted?How is PAS viewed by disability organizations? Has this evolved in the past 13 years? If so why? If not, why?Are persons with disabi...
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care syndicated Source Type: blogs
Do genetic tests help in preparing for potential future health issues or open Pandora’s box full of concerns, worries and hypochondriac thoughts? Would you want to know your genetic fate? Whether you are at risk for Alzheimer’s or a chronic disease 30 years in advance? Would you want to live with this kind of information? Would you take the BRCA test to find out that you are at risk for breast cancer? What would you do if you were? The Medical Futurist team contemplated situations requiring hard, life-altering decisions. What would you do? Our genetic heritage carries secrets that are difficult to process In Se...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Genomics alzheimer disease DNA dna testing doctor-patient doctor-patient relationship DTC future genetics Huntington's patient empowerment personal genomics Source Type: blogs
Due to the collapse of the price of genetic testing and the FDA’s gradual ease of the regulatory environment, direct-to-consumer (DTC) genetic testing companies are booming. You can inquire your deoxyribonucleic acid about your ancestry, health risks, metabolism, and some start-ups even promise you to find true love or your kids’ talents. As the jungle of DTC companies is getting denser, more and more people ask me which genetic tests are worth the try. They love the possibility of getting access to their DNA but don’t know where to start. Here’s the DTC genetic testing kick-starter package! Naviga...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Genomics 23andme ancestry DNA DTC future genetic test Genetic testing genetics Genome genome sequencing Health 2.0 Source Type: blogs
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