Question

Compare and contrast two genetic or developmental disorders. Discuss the treatments and advance technologies offered to assist individuals that were not available in the past years. 230-250 word discussion on this topic please avoid plagiarism please cite words, give reference this is pathophysiology class ( human disease 5th addition ) Examples cardiovas- Congenital heart failure, Atrial septal defect, ventricular spetal defect, patent ductus arteriousus, coarctation of the arota. Examples Blood - cell anemia, hemophilia, Examples Digestive- Cleft lip palate, pyloric stenosis, phenylketonuria (PKU), hirschsprung's disease.

Answer 1

Cell anaemia is a genetic disorder that is characterized by the production of a haemoglobin called haemoglobin S. Normally haemoglobin is associated with transport of oxygen throughout the body. Haemoglobin is made up of 4subunits which means it has two alpha globin subunits and two beta globin subunits. Cell anemia or sickle cell anemia is a condition caused due to the mutation in the Hbb gene coding for beta globin units.

Cell anaemia is autosomal recessive disease which will occur only in that condition where both the maternal and paternal copies of Hbb gene show defect. That means in order to develop cell anaemia the progeny should get the defective Hbb gene from both the parents. If the progeny has received just one copy of the defective Hbb gene either from mother or father then the progeny won't be cell anaemia infected rather they act as carriers. In sickle cell anemia infected persons the red blood cells will not be healthy enough to carry oxygen they will be elastic or sticky with crescent moon shapes. These irregular shaped blood cells will get trapped in the small blood vessels and cause obstruction in blood flow and thereby affect oxygen delivery. Main symptoms of sickle cell anemia include painfull swellings, anemia in which RBC will have a shorter life span, problems with vision etc.

Treatments

Antibiotics like penicillin, voxelotor etc are administered to the patients to get relief from pain and other complications. Blood transfusion is another treatment method adopted in which administering blood will maintain the circulation of normal blood cells make the situation under some control.

Stem cell transplantation is another advanced method used in which bone marrow of the infected individual is replaced with a healthy bone marrow after finding a suitable donor.

Phenylketonuria PKU

It is another autosomal recessive metabolic disorder associated with the the incapability of the body to utilise amino acid phenylalanine.Phenylalanine is an essential amino acid that is degraded within the body by tyrosine pathway. Individuals suffering from this disease lacks an enzyme called phenylalanine hydroxylase that helps in the conversion of phenylalanine to tyrosine. Absence of this enzyme causes the phenylalanine to accumulate in the body. This is caused by mutation in the both alleles of PAH gene located on chromosome 12. This is characterized by vomiting, rashes and a musty odour to urine and body in severe cases causes mental retardation and seizures.

Treatments

Intake of food with low protein content especially phenylalanine rich foods.

Neutral amino acid therapy which may block the absorption of phenylalanine.

Administration of sapropterin drug that increases tolerance to PKU.

In short cell anemia is infecting the RBC and causes anemia whereas PKU is a metabolic disorder associated with mutaion in PAH gene.