Sickle Cell Disease and Cystic Fibrosis - Essay Example

"Sickle Cell Disease and Cystic Fibrosis" is an excellent example of a paper on genetics and birth defects.
The genetic change that causes sickle cell disease is an autosomal recessive inheritance from a carrier. The defective gene is carried from a mother and father to a child. The gene change damages the function of red blood cells (Bloom, 2009).

Question 2

 The type of mutation that has caused a genetic change in jasmine’s blood is referred to as substitution mutations. The mutation alters the structure of the amino acids that produce the proteins in the red blood cells.

Question 3

Substitution mutations in sickle cell anemia alter protein hemoglobin. The beta-globin gene interferes with the ability of the amino acids to produce cells. The protein fails to provide instructions for the transportation of oxygen to different organs in the body (Bloom, 2009).

Question 4

The normal role of beta-hemoglobin in physiological processes is to transport oxygen to different organs in the body. Oxygen sustains organs' liver and lungs among other vital organs in the body.

Question 5

Aberrant protein is produced when the abnormal version of beta-globin called HbS is produced in the blood. The mutation alters the structure of amino acid in the globin-giving rise to rigid molecules. Valine in beta-globin replaces the amino acid and glutamic acid.

Question 6

Aberrant protein causes beta-globin molecules to stick together, and the structure reduces the capacity of hemoglobin to transport oxygen to different organs in the body. HbS causes red blood cells to bend and die prematurely.

Question 7

Bending of the red blood cells increases the aging rate, and that causes elevated bilirubin for the patient. Jasmine records decreased hematocrit percentage because there is a low volume of red blood cells in the blood. The number and the size of the red blood cells determine the hematocrit percentage (Bloom, 2009).

Case 4 (B): Cystic Fibrosis

Question 1

The gene changes that cause cystic fibrosis are defective genes on chromosome 7. The defective gene impairs the proteins that produce and regulate sodium chloride in the body (Orenstein, Spahr & Weiner, 2012).

Question 2

Insertion and deletion mutations cause cystic fibrosis. The mutation increases or decreases the number of chromosomes that are inherited from the mother and father. The mutations also interfere with the production of Cystic Fibrosis Transmembrane Regulator (CFTR).

Question 3

The protein that is altered by the mutations in CF is called CFTR regulate. The alteration reduces the movement of salts in and out of the cells in the body.

Question 4

Defective CFTR proteins fail to produce to control the movement of salts in and out of cells. Thick mucus is produced in the lung cells leading to pulmonary infection. The thick mucus also blocks the digestive enzymes in the intestines and impairs the digestion of food. Patients develop stooling issues. Weight gain occurs as a result of imbalanced minerals and reduced the uptake of nutrients in the body (Orenstein, Spahr & Weiner, 2012).

Question 5

CFTR proteins control the movement of salts in and out of the body cells during normal physiological processes.

Question 6

The mutations interfere with the CFTR gene to give rise to aberrant protein. The aberrant protein inhibits the production of CFTR that changes a line of amino acids and the entire gene sequence.

Question 7

The aberrant protein leads to the production of mucus on the CFTR membrane so that there is not a flow of chloride ions. The ions fail to control the movement of water in the tissues.

Question 8

The elevated salt in a 10-old boy is caused by a lack of movement of salts in the cells. CF infects the sweat glands leading to loss of too much salt in sweat (Orenstein, Spahr & Weiner, 2012).