Revoning Physical Chromosome: The main information

Autosomal recessive diseases under the protection of a specific disease, condition or trait on the type of chromosome, the two types are physical chromosomes and sexual chromosomes, and also depends on whether the feature is predominant or recessive. The mutation in one gene can lead to a physical disorder as the genes come in pairs, and one of the genes comes in each mother and the other none of the father. Reverend genetics mean that both genetics with the man must be abnormal to develop the disease. People with only one flawed gene are mentioned only with the man who is pregnant with the disease, and these people are often not affected in this condition, and yet they can transfer the abnormal gene to their children. Types of recessive genetic chromosome diseases include the most important types of recessive genetic chromosome diseases: 1. Cystic fibrosis cystic fibrosis is a common genetic disorder found in one gene, people with cystic fibrosis produce thick mucus and abnormal viscous that can damage the body organizations, and the mucus causes a lung longe. 2. Emple -Nullifier -anemia is the sickle cell anemia. 3. Tai Sachs is a deadly -saxhal disease a dead disorder that usually affects children at the age of five and causes a gradual degeneration of the central nervous system and the result of the lack of an enzyme called hexosaminidase A. Symptoms of recessive physical pigmentation include the most prominent symptoms. Anemia is easily disintegrated and dies, leaving you with some red blood cells, where red blood cells usually live for about 120 days before replace them, but the cells usually die within 10-20 days, resulting in a decrease in red blood cells. Pynepisodes are periodic pain attacks, called the crises of the Al -Delhini, as the pain develops when the red blood cells are prevented in the form of a sickle blood flow through the microscopic blood vessels to your breast, stomach and joints, pain can also occur in your bones. Hand swelling and feet occur due to red blood cells in the form of a sickle that occurs blood flow to the hands and feet. Repeated infection The sickle cells can damage the spleen, which makes you more vulnerable to infection, gives infants and children with sickle cell anemia to vaccinations and antibiotics to prevent life that can threaten life, such as: pneumonia. Delayed growth or maturity offers red blood cells your body of oxygen and nutrients required for growth; Healthy red blood cells can therefore slow down the growth of infants and children and slow down puberty in adolescents. Vision problems can block the exact blood vessels that feed your eyes with sickle cells and this can harm the retina. 2. Symptoms of cystic fibrosis include the most important symptoms as follows: The breathing signs and symptoms block thick mucus and mixing associated with cystic fibrosis, breathing tract that carries air inside and outside your lungs, causing the following symptoms: a continuous cough that causes thick mucus. flute. Regular lung infections. Inflammation of the nostrils or the obstruction of the nose. Repeated sinusitis. Signs and symptoms of the digestive system The thick mucus can also block the digestive tract that transmits digestive enzymes from the pancreas to the small intestine, and without these digestive enzymes, the intestines will not be able to absorb the nutrients they eat, causing the following symptoms to appear: ultra -melting scents. Weakness in weight gain and growth. Intestinal blockage, especially with newborns. Chronic or serious constipation, which may include regular tension while trying to pass the faeces, eventually leads to the rise of part of the rectum outside the anus. Causes and factors of the risk of recessive physical dye diseases include the most important causes of recessive physical chromosome diseases. Emogie anemia The abnormal hemoglobin causes red blood cells solid, sticky and distorted. Both the mother and father must convey the lack of form of the gene until the child is affected. If only one of the parents transferred the gene to the child to the child, this child will have the characteristic of the sickle cell, and with the presence of one natural hemoglobin gene and a lack form of gene, people suffering from the characteristic of the sickle cell make both the natural hemoglobin and cellphone hemoglobin. Their blood may contain some sickle cells, but they do not have symptoms in general, but they still carry the disease, which means they can transmit the gene to their children. The risk of sickle cell anemia so that the child can be born with sickle cell anemia must bear both the parents of the sickle cell, and its danger is that the sickle cells are at risk of destroying the spleen due to their shape and hardness. 3.. Causes and factors of cystic fibrosis. The following clarification: Causes of cystic fibrosis in cystic fibrosis. A deviation in a none regulator of delivery over the membrane in cystic fibrosis changes the protein that regulates the movement of salt inside and outside the cells, which produces thick mucus and sticky in the breathing system, the digestive and reproductive system, in addition to the increasing salt in sweat. Many different defects can occur in the gene, where the type of genetic mutation is associated with the severity of the condition, children must inherit a single copy of the gene of every father until they develop the disease, and if the children will inherit only one copy, they will not develop cystic fibrosis, but they will be able to transfer the gene and the gene to their children. Risk factors in cystic fibrosis Because cystic fibrosis is a genetic disorder, it applies in families, so family history is a dangerous factor, despite the prevalence of cystic fibrosis in all races, it is more common in white people from Northern Europe. The complications of recessive physical chromosome diseases include the most important complications as follows: 1. The complications of sickle cell anemia include the most important complications as follows: Stroke The sickle cells can occur blood flow to an area of ​​your brain, and contains signs of stroke, seizures, weakness or numbness in your arms and legs, sudden problems in speech. Acute chest syndrome can cause lung infection or sickle cells that block the blood vessels in your lungs that threaten life, leading to pain, fever and breathing problems. High pulmonary arterial pressure can develop sickle cell anemia in high blood pressure in their lungs and usually affects adult complications, and shortness of breath and exhaustion is a common symptom of this condition, which can be deadly. Blindness of sickle cells can fill the micro blood vessels that feed your eyes, and over time it can damage your eyes and lead to blindness. Bone -ulkus can open sickle cell anemia on your bones. Gallstones stem from red blood cells, a substance called bilirubin, where the high level of bilirubin in the body can lead to the formation of gallbladder stones. The complications of pregnancy can increase the sickle cell anemia due to the risk of high blood pressure and blood clots during pregnancy, can also increase the risk of miscarriage, premature birth and children at low weight at birth. 2. Complications of cystic fibrosis include the most important complications. Unnatural and scars in the airways. Chronic inflammation of the thick mucus in the lungs and sinuses causes a fertile soil to multiply bacteria and fungi, and people with cystic fibrosis often suffer from sinus infections, bronchitis or pneumonia. A blood -led cough The bronchial extension can occur along the blood vessels in the lungs, and the combination of airway and infection can lead to a blood -guided cough. The breast arranged in this case licks the air in the vacuum that separates the lungs from the chest wall and parts of the lung or everyone, and it is more common in adults with cystic fibrosis. Breathing stops over time The cystic fibrosis can cause lung tissue to damage so much that it no longer works, and usually the lung function is gradually deteriorated, and it can eventually become life -threatening. Diabetes produces the insulin your body needs to use sugar as cystic fibrosis increases the risk of diabetes. Liver disease can be exposed to the tube that is bile from the liver and bitterness to the small intestine to blockage and inflammation, and this can lead to liver problems, such as: jaundice, fatty liver disease and liver cirrhosis. Infertility in men, almost all men with cystic fibrosis suffer from infertility; Because the tube connecting the testes and the prostate gland is either blocked with mucus or completely missing. Low fertility in women Although women with cystic fibrosis are less fertile than other women, they can carry and carry successfully. The diagnosis of recessive physical chromosome diseases contains the most important diagnostic methods of the following: 1. Methods to diagnose sickle cell anemia. A blood test is performed from the poor form of hemoglobin that lies behind the sickle cell anemia, as this blood test is part of the routine examination of newborns, but older children and adults can also be tested. In adults, the blood sample is pulled out of the ear in the arm, and in young children and infants the blood sample is usually collected from a finger or heel, and then the sample is sent to the laboratory and examined in search of lack of hemoglobin. 2. Methods of diagnosis of cystic fibrosis include the following: A newborn diagnosis has regularly examined newborns in search of cystic fibrosis; Because early diagnosis means treatment can start immediately. In one of the exam tests, the blood sample is investigating higher levels of natural chemical, called immunoractive trypsinogen, which is launched by the Pancreas. The levels of this substance at newborns may be high due to premature birth or stressful birth, for this reason there may be necessary for other tests to confirm the diagnosis of cystic fibrosis. Diagnosis of older children and adults can be advised to perform cystic fibrosis tests for older children and adults who have not yet been examined at birth, and your doctor may suggest that you have genetic and ethnic tests to detect cystic fibrosis if you have repeated episodes of pancreatitis, noses, sinusitis, chronic lung -inflammation, or lung. Chronic Long inflammation, bronchial attachment, suffer. Treatment of recessive physical chromosome diseases includes the most important treatment methods as follows: 1. Drug therapy includes the following: Hydroxyurea (Hydroxyure) Reduce the daily hydroxi -ureae from the repetition of painful crises and can also increase the need for blood transfusion and hospitalization, and it can also increase the risk of infection. Crizanlizumab The Food and Drug Administration recently agreed to this medicine to treat sickle cell anemia where this drug is given intravenously, and it helps to reduce the severity of the pain. Pain – The relief of medication may prescribe medicine medicine to relieve pain during severe pain. Voxelotor recently agreed to this oral medicine to improve anemia in people with sickle cell anemia. 2. Surgical therapy contains the following: Blood transfusion in the process of transporting red blood cells. Red blood cells are removed from the donated blood supply, and then it is given intravenously to a person with sickle cell anemia, and it increases the number of natural red blood cells, which helps reduce symptoms and complications. System transplantation This procedure is also known as bone marrow transplant and contains the replacement of bone marrow with sickle cell anemia with a healthy bone marrow of the donor. Prevention of recessive physical chromosome If you carry the genetic cell gene, a genetic consultant visit before the pregnancy effort can help you understand the risk of a child with sickle cell anemia, they can also explain potential treatments, preventative measures and reproductive options.