Cystic fibrosis. Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.[1] The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.[2] Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with antibiotics and other medications. Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a frameshift mutation in the gene [3] for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive fluids, and mucus. Signs and symptoms[edit] Health problems associated with cystic fibrosis.
What is Cystic Fibrosis? [Cystic Fibrosis Trust] Haemophilia. Haemophilia (/hiːməˈfɪliə/; also spelled hemophilia in North America, from the Greek haima αἷμα 'blood' and philia φιλία 'love'[1]) is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births.[2] Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.
Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Haemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. Signs and symptoms Characteristic symptoms vary with severity. Causes. The Haemophilia Society | Home. Sickle-cell disease. Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape.
Sickling decreases the cells' flexibility and results in a risk of various life-threatening complications. This sickling occurs because of a mutation in the haemoglobin gene. Individuals with one copy of the mutant gene display both normal and abnormal haemoglobin. This is an example of codominance. Life expectancy is shortened. Sickle-cell anaemia is a form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. The term disease is applied because the inherited abnormality causes a pathological condition that can lead to death and severe complications. Signs and symptoms[edit] Sickle cells in human blood: both normal red blood cells and sickle-shaped cells are present Normal blood cells next to a sickle-blood cell.
Sickle cell crisis[edit] Vaso-occlusive crisis[edit] Sickle cell anemia - PubMed Health. Huntington's disease. HDA - Huntington’s Disease - What is Huntington's disease?