Hereditary Spherocytosis is a condition in which red blood cells are shaped like spheres instead of flat discs. Because of their unusual shape, the HS red blood cells have difficulty passing through the spleen, the organ that rids the blood of dead cells and bacteria. Those affected by this condition experience anemia, jaundice, and an enlarged spleen (NLM “Hereditary Spherocytosis”).
In Cystic fibrosis, a defective gene causes a buildup of thick, sticky mucus that obstructs the passages of many of the body’s organs. The mucus traps bacteria, which makes the organs susceptible to infection. When mucus is trapped in the lungs, the affected person has difficulty breathing and multiple lung infections due to the presence of bacteria in the mucus. …show more content…
Autosomal means that the gene is located on one of the autosomal chromosomes and if both parents contribute a recessive gene for the disorder, there is a chance that the child may have the disorder (NLM “Autosomal Recessive”). The specific mutated gene that contributes to cystic fibrosis is the CFTR gene. The CFTR gene provides instructions for cystic fibrosis transmembrane conductance regulator protein, which functions as a channel transporting chloride ions across the plasma membrane. This protein also regulates the transport of sodium ions across the cell. Chloride ions aid in the movement of water into and out of cells so that epithelial cells lining organs can produce a thin, fluid mucus as a lubricant or protectant. A mutated CFTR gene is unable to provide instruction for chloride ion transport across the plasma membrane, resulting in an insufficient movement of water into and out of cells. This results in organs producing a thick, hard mucus that is hard to move (NLM …show more content…
The mucus-secreting glands that line the airways of the lungs begin to produce thick, sticky mucus, which clogs the bronchi making it difficult or impossible to breathe, eventually causing lung damage (Jr., Floyd, "Cystic Fibrosis"). Because the mucus lingers in the passageways, the lungs are more susceptible to infections due to mucoid bacteria such as Pseudomona. Medicines that thin mucus, dilate the bronchi, and reduce swelling in the passageways are used to help relieve the effects CF has on the respiratory system When the mucus-secreting glands that line the ducts of the pancreas begin to produce hard, sticky mucus, the ducts also become clogged. This blocks the flow of enzymes needed for digestion and absorption of food, which results in bulky stools, intestinal gas, and the body not obtaining essential nutrients. Oral pancreatic enzymes are prescribed in order to aid in digestion as well as nutrient absorption (“How is Cystic Fibrosis
In Cystic fibrosis, a defective gene causes a buildup of thick, sticky mucus that obstructs the passages of many of the body’s organs. The mucus traps bacteria, which makes the organs susceptible to infection. When mucus is trapped in the lungs, the affected person has difficulty breathing and multiple lung infections due to the presence of bacteria in the mucus. …show more content…
Autosomal means that the gene is located on one of the autosomal chromosomes and if both parents contribute a recessive gene for the disorder, there is a chance that the child may have the disorder (NLM “Autosomal Recessive”). The specific mutated gene that contributes to cystic fibrosis is the CFTR gene. The CFTR gene provides instructions for cystic fibrosis transmembrane conductance regulator protein, which functions as a channel transporting chloride ions across the plasma membrane. This protein also regulates the transport of sodium ions across the cell. Chloride ions aid in the movement of water into and out of cells so that epithelial cells lining organs can produce a thin, fluid mucus as a lubricant or protectant. A mutated CFTR gene is unable to provide instruction for chloride ion transport across the plasma membrane, resulting in an insufficient movement of water into and out of cells. This results in organs producing a thick, hard mucus that is hard to move (NLM …show more content…
The mucus-secreting glands that line the airways of the lungs begin to produce thick, sticky mucus, which clogs the bronchi making it difficult or impossible to breathe, eventually causing lung damage (Jr., Floyd, "Cystic Fibrosis"). Because the mucus lingers in the passageways, the lungs are more susceptible to infections due to mucoid bacteria such as Pseudomona. Medicines that thin mucus, dilate the bronchi, and reduce swelling in the passageways are used to help relieve the effects CF has on the respiratory system When the mucus-secreting glands that line the ducts of the pancreas begin to produce hard, sticky mucus, the ducts also become clogged. This blocks the flow of enzymes needed for digestion and absorption of food, which results in bulky stools, intestinal gas, and the body not obtaining essential nutrients. Oral pancreatic enzymes are prescribed in order to aid in digestion as well as nutrient absorption (“How is Cystic Fibrosis