In sickle cell anemia, the abnormal haemoglobin (Haemoglobin-S) sticks together when it gives up its oxygen to the tissues. These clumps cause red blood cells to become stiff and shaped like a sickle. It takes two copies of the sickle cell gene for the body to make the abnormal haemoglobin found in sickle cell anemia. Sickle-cell anemia is caused by a point mutation in the ß-globin chain of haemoglobin, replacing the amino acid glutamic
TO FIND THE PREVELENCE OFSICKLE CELL ANEMIA IN SWAT VALLEY (adil baig) INTRODUCTION Sickle cell anemia is a disease caused by an autosomal recessive genetic mutation in the formation of hemoglobin. Individuals who are affected with sickle cell anemia have two copies of the mutation Hb SS and the primary hemoglobin present in their erythrocytes is sickle hemoglobin (Koch et al., 2000). The symptoms of sickle cell anemia do not follow a general pattern and can vary in each individual. All the different conditions and symptoms documented stem from the central fact that the sickle-shaped erythrocytes tend to get stuck in narrow blood vessels, blocking the flow of blood (Bownas, 2002). Symptoms of sickle cell anemia are wide-ranging, affecting many different organs of the body.
Cystic Fibrosis Cystic fibrosis is a hereditary disease, which is caused by the accumulation of mucus in epithelial cells of the digestive, respiratory, and reproductive tracts. Cystic fibrosis transmembrane conductance regulator (CFTR) facilitates chloride channel and controls several other metabolic pathways. Mutations in the particular gene cause cystic fibrosis. CFTR gene functions in regulating sweat, digestive juices, and mucus. A human body consists of two functioning CFTR gene, and when neither gene functions efficiently, cystic fibrosis is developed, and hence has autosomal recessive inheritance.
The other 10 percent of cases result from new mutations in one of the genes and occur in people with no history of the disorder in their family. Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other, as yet unidentified, genes. Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the PKHD1 gene in each cell.
SCA is caused by a deformation of the hemoglobin protein in the red blood cell. The deformation is called hemoglobin S. Due to a lack of oxygen, hemoglobin S changes the shape of the red blood cells, turning them into sickled or crescent-like and very fragile. These particular blood cells deliver less oxygen to the body, are susceptible to becoming stuck in smaller blood vessels,
Task 1 Kleinfelters syndrome An error in cell division called nondisjunction which results in a reproductive cell with an abnormal number of chromosomes .Resulting in one of more x chromosomes. Resulting in a total of 47 chromosomes per cell. Downs syndrome An error during anaphase causes problems like trisomy 21 when there is 3 chromosomes for the chromosomes pair 21. Name two conditions /disease caused by gene mutation. Haemophilia Albinism Task 2 (B) Sickle cell anaemia Anaemia Anaemia is a lack of blood cells which is a common symptom of sickle cell anaemia.
When the organ in our body is deprived of oxygenated blood that organ or part of it will die. This is exactly what happens in vascular dementia. The conditions which can cause these problems are preventable and include diabetes, heart problems, high blood pressure and cholesterol. Rarer forms of dementia are: • Creutzfeldt-Jakob disease known as CJD is caused by prion disease. Prions are proteins in body and when these protein cluster together in the brain they cause brain cells to die
Before the chickenpox vaccination was invented, nearly all people within the same geographical area had been infected, and by the time they reached their adulthood, they would have suffered a great deal, this is because, though in children chickenpox is mild, there are some degrees of risk that may lead to serious complications, such as bacterial pneumonia. Individuals who have suffered the chickenpox infection develop lifetime immunity as they are unlikely to be infected by it again. However, the virus remains dormant in the
More than 10 million Americans carry the cystic fibrosis gene but don’t even know it. Patients with cystic fibrosis have to do daily physical therapy to clear mucus from the lungs. People who have cystic fibrosis lead a complicated life and we must consider these individuals as courageous human
CD4 cells are a specific group of white blood cells that play a large role in helping somebody to fight off diseases. A person with HIV will have a weaker immune system as their CD4 cells are killed. A person can live with HIV for many years before it progresses to AIDS