Sickle cell anemia malayalam

Sickle cell disease can result from mutations within different parts of the HBB gene. This results in dysfunctional hemoglobin proteins and different presentations of sickle cell disease. These include: • HbSS: If you have inherited the sickle cell gene from both of your parents, you will likely have symptomatic sickle cell disease. • HbS beta thalassemia: You could have this type of sickle cell disease if you inherit a gene for sickle cell disease from one parent and a gene for beta thalassemia (a different kind of hemoglobin disorder) from the other parent. Symptoms can be more severe than other forms of sickle cell disease. • HbSC, HbSD, HbSE, HbSO: You may have one of these sickle cell disease variants if you inherit the sickle mutation of the HBB gene from one of your parents and a different mutation in the HBB gene from the other parent. Symptoms may vary. Does My Baby Have Sickle Cell Anemia Symptoms? The symptoms of sickle cell disease and sickle cell anemia are usually episodic, meaning they are not present all the time. What Happens During a Sickle Cell Anemia Crisis? A sickle cell anemia crisis occurs when the blood cells change their shape to resemble a collapsed sickle shape (like the letter "C"), instead of a smooth, round shape with central indentation. This sickle shape results in stickiness of the cells, causing an accumulation of red blood cells that may obstruct blood vessels throughout the body. Sickle cell disease is a chronic condition. Making sure th...

What is sickle cell anemia? Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). Normally, RBCs are shaped like discs, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage. SCD is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait. Symptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark. While there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include: • excessive fatigue or irritability, from anemia • fussiness, in babies • bedwetting, from associated kidney problems • jaundice, which is yellowing of the eyes and skin • swelling and pain in hands and feet • frequent infections • pain in the chest, back, arms, or legs Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different mutations in these genes. Hemoglobin SS disease Hemoglobin SS disease is t...

What is sickle cell disease? Sickle cell disease is an inherited blood disorder. It is marked by flawed hemoglobin. That’s the protein in red blood cells that carries oxygen to the tissues of the body. So, sickle cell disease interferes with the delivery of oxygen to the tissues. Red blood cells with normal hemoglobin are smooth, disk-shaped, and flexible, like doughnuts without holes. They can move through the blood vessels easily. Cells with sickle cell hemoglobin are stiff and sticky. When they lose their oxygen, they form into the shape of a sickle or crescent, like the letter C. These cells stick together and can’t easily move through the blood vessels. This can block small blood vessels and the movement of healthy, normal oxygen-carrying blood. The blockage can cause pain. Normal red blood cells can live up to 120 days. But, sickle cells only live for about 10 to 20 days. Also, sickle cells may be destroyed by the spleen because of their shape and stiffness. The spleen helps filter the blood of infections. Sickled cells get stuck in this filter and die. With less healthy red blood cells circulating in the body, you can become chronically anemic. The sickled cells also damage the spleen. This puts you are at greater at risk for infections. What causes sickle cell disease? Sickle cell is an inherited disease caused by a defect in a gene. • A person will be born with sickle cell disease only if two genes are inherited—one from the mother and one from the father. • A per...

Abstract Sickle cell anemia (SCA) is an inherited autosomal recessive disease. It is caused due to point mutation that substitutes glutamate with valine at the sixth amino acid position of the beta chain of hemoglobin molecules leading to the sickling of the red blood cells and decreased structural deformability. Silent cerebral infarcts are the most common neurological complication of SCA, while overt stroke comprises substantial burden in patients with SCA. This meta-analysis aimed to find the pooled prevalence of overt stroke in SCA patients and discuss the importance of screening them. PubMed, Embase, and Google Scholar were the electronic databases used to search the studies. A total of 765 articles were retrieved upon detailed searching in the abovementioned databases. After a series of removing duplicate articles, title and abstract screening, and full-text review, 20 articles were found eligible and included in the study. The total number of participants from all the included studies was 3,956, and pooled prevalence of stroke in patients with sickle cell anemia in Asia was found to be 5% (95% CI: 4%, 6%) with a range from 1 to 41%. Stroke occurrence in sickle cell anemia patients is an emergency complication that needs immediate intervention and management. Because of the high prevalence of stroke in patients with sickle cell anemia, clinicians should focus on its prevention and treatment strategies. 1. Introduction Sickle cell disease is a group of inherited red b...

Sickle cell disease (SCD), which affects approximately 100,000 individuals in the USA and more than 3 million worldwide, is caused by mutations in the βb globin gene that result in sickle hemoglobin production. Sickle hemoglobin polymerization leads to red blood cell sickling, chronic hemolysis and vaso-occlusion. Acute and chronic pain as well as end-organ damage occur throughout the lifespan of individuals living with SCD resulting in significant disease morbidity and a median life expectancy of 43 years in the USA. In this review, we discuss advances in the diagnosis and management of four major complications: acute and chronic pain, cardiopulmonary disease, central nervous system disease and kidney disease. We also discuss advances in disease-modifying and curative therapeutic options for SCD. The recent availability of l-glutamine, crizanlizumab and voxelotor provides an alternative or supplement to hydroxyurea, which remains the mainstay for disease-modifying therapy. Five-year event-free and overall survival rates remain high for individuals with SCD undergoing allogeneic hematopoietic stem cell transplant using matched sibling donors. However, newer approaches to graft-versus-host (GVHD) prophylaxis and the incorporation of post-transplant cyclophosphamide have improved engraftment rates, reduced GVHD and have allowed for alternative donors for individuals without an HLA-matched sibling. Despite progress in the field, additional longitudinal studies, clinical tri...

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