Sickle cell anemia: What Causes Sickle Cell Anemia? Sickle Cell and Haemoglobin S Sickle cell anemia is an inherited condition. People with sickle cell anemia inherit two copies of the sickle cell gene, one from each parent. The sickle cell gene makes abnormal haemoglobin called haemoglobin-S. In sickle cell anemia, the abnormal haemoglobin (Haemoglobin-S) sticks together when it gives up its oxygen to the tissues.
The genetic disorder I wanted to learn more about and look into was sickle cell anemia. The name of the disorder is derived from the type of blood cell formation that is produced in the body of someone who lives with this disease. Most red blood cells are in the form of discs, and are filled with iron rich protein whose purpose to to carry oxygen from the lungs to the rest of your body. Sickle red blood cells are crescent in shape. Sickle cells can block blood flow in vessels of the limbs and organs.
Spinal Muscular Atrophy Spinal muscular atrophy or SMA for short is a neuromuscular disease. SMA represents a group of autosomal-recessive disorders, leading to muscle weakness and atrophy. This disorder is common and is passed on genetically to children by their parents. You cannot “catch” Spinal Muscular Atrophy by being around someone who has it. It is caused by progressive deterioration of the anterior horn cells of the spinal cord.
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.
PKD1 PKD2 PKHD1 How do people inherit polycystic kidney disease? Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. 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.
Duchenne Muscular Dystrophy Composition II Week 2 Individual Work By Bobby Pearson February 2, 2013 Duchenne Muscular Dystrophy (DMD) is a disease that causes the wasting away of the leg and pelvic muscles. The disease usually affects boys between the ages of three and five. There are nine different types of muscular dystrophy. Duchenne is one of the most common forms. Becker Muscular Dystrophy is a milder form of Duchenne; it has a later age onset, some as late as 40 to 50 years of age and a slower clinical progression (DMD, 2009).
Tay-Sachs Disease “A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes” (Genetic). One genetic disorder is Tay-Sac Disease which is caused by a genetic defect that is passed from parent to child. Tay-Sachs disease is a autosomal recessive disease characterized by an abnormal accumulation of certain fat compounds in the spinal cord and brain. Inheritance of Tay-Sachs Children can get this disease if both parents are carrier of Tay-Sachs than the baby can inherit the disease from each of them.
Some of the different forms of MD are; Duchenne's muscular dystrophy it is the most severe form of dystrophinopathy and is the most common form of MD that affects children. Signs and symptoms of Duchenne's MD are regular falls, Large calves, difficulty getting up from a lying or sitting , Weakness in lower leg muscles, resulting in difficulty running/jumping, and mild mental retardation. Becker's muscular dystrophy is a milder form of dystrophinopathy. Signs and symptoms of Becker's MD are similar to Duchenne's. The start of the signs and symptoms is generally around the age 11, but may not happen until the mid-20s or even later.
Dominant genetic disorders mean that only one parent needs to carry the disorder in order for an offspring to have it, and quite often, that parent also has the disease/disorder as well. For offspring, there is a 50/50 chance of inheritance of a disorder, and if they do NOT inherit the mutation, then they will NOT pass it along to their offspring. A good example of this would be Huntington's disease. http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm Recessive genetic disorders mean that both parents need to carry this trait,
Multiple sclerosis Multiple sclerosis This booklet includes- The symptoms of Multiple Sclerosis The impact of Multiple Sclerosis The signs of Multiple Sclerosis What is multiple Sclerosis? Multiple Sclerosis is a disease that affects the brain and the spine, eventually it ends in not being able to control muscles, loss of vision, not being able to balance, and numbness. When you suffer from multiple sclerosis the brain and spine are damaged by the immune system, this is known as an autoimmune disease. The symptoms- The symptoms affect every person differently, they vary on how much damage has been done to the nerves. Some symptoms include: -visual Problems: the visual problems are one of the first to occur normally.