Sickle Cell 1. Sickle Cell disease are genetic disorders resulting from the presence of a mutated of a form of hemoglobin, and found in commonly in North America is homozygous disease, an autosomal recessive disorder first described by Herrick in 1910 and causes significant morbidity and mortality, particularly in African people and Mediterranean ancestry. 2. Approximately half the individuals with homozygous HbS disease experience vaso-occlusive crises. The frequency of crises is extremely variable. Some individuals have as 6 or more episodes annually, whereas others may have episodes only at great intervals or none at all. Each individual typically has a consistent pattern for crises frequency. And occur in children that are carriers inherit the sickle cell disease from both parents. 3. Because the genetic disorder is completely recessive, a person with only one SCS alleles and on unaffected allele will have a mixed phenotype and won’t suffer the experience the ill effects of the disease and yet still poses a sickle cell trait. If two carriers will have 25% chance of disease and 50% a child will be a carrier. 4. It will be caused by the presence of two incompletely recessive red blood cells are exposed to low-oxygen conditions, cells lose their healthy round shape and become sickle cell shaped. 5. Everyone is carriers of genes that are responsible for creating hemoglobin. 6. I would just be honest with the couple and make them understand all about the disease and what treatments are available for the child and make sure that they attend counseling programs with other parents to help them though this situation. I must give proper medical advice and plans for procedures to follow. 7. It can cause pain and deprived oxygen. The red blood cells change and clump together and damage organs and tissues that are deprived by oxygen 8. Y y
Y YY Yy
Y Yy yy
Cystic Fibrosis 1. Cystic Fibrosis is a hereditary disease affecting the cell that produce mucus, sweat and digester juices in organs such as the lung, pancreas and the liver. 2. This condition is inherited in an autosomal recessive pattern which names both copies of the gene in each cell have mutations. The parents of an individual with autosomal recessive conditions each carry one copy of the mutated genes, but they typically do not show signs and symptoms of the conditions. 3. The genotype is a Cc and the carrier has a healthy gene of an unaffected individual. 4. In both males and females they won’t make children they have their carry sperm blocked with mucus and don’t develop properly. 5. The chance is that it is possible that they carry one unaffected healthy gene and that is enough to stop the disease.

6. I would tell the couple that with proper treatments and medical follow ups they can survive. I will advice them and explain all details about the disease. And how they will or can manage this sickness by seeking medical attention. 7. It is found in both males and females and can be detected early during first months of birth. Some conditions are digestive and respiratory traits.
Achondroplasia
1. Achondroplasia is a form of short –linked dwarfism. The Achondroplasia literally means “without cartilage formation.” However, the problem is not in forming cartilage but in converting it to bone a process called ossifications, particularly in the long bones of the arms and legs. A human can be born with a large head or other parts of their body. 2. Achondrooplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with Achondroplasis have inherited an altered FGFR3 gene from one or two affected parents. 3. The genotype will be a recessive trait for unaffected individuals.
The genotype for affected individuals with Achondroplasia who has a reproductive partner woth average stature has 50% risk in each pregnancy of having a child with achondroplasia. When both parents have achondroplasia, the risk to their offspring of average stature is 25% of having achondroplasia, 50% and o having homozygous achondroplasia (a lethal condition), 25% Prenatal testing for pregnancies at increased risk is possible. 4. In individuals in whom there is diagnostic uncertainty or atypical findings, molecular genetic testing can be used to detect a mutation in FGFR3, the only gene known to be associated with achondroplasia. 5. To the couple I will tell them slowly the diagnoses of their child and explain what the disease is and what can be done, because today technology has many new tests and procedures that can be possible. 6. Achondroplasia condition will occur in about 1 in 155,000 to 40,000 babies born. 7. Affected individuals have short legs, arms a large head and facial features with frontal bossing and midface retrusion.
Hemophilia
1. Hemophilia is an inherited, X –linked, recessive disorder caused by deficiency of functional plasma clothing factor VII 9FVII), significant rate of spontaneous mutation and acquired immunologic processes can result in this disorder as well. It can cause death and other diseases. 2. Daughters will be ½ carriers, ½ will not be carriers. All will be unaffected.
Sons are ½ unaffected, ½ will be affected, and daughters are carriers. 3. The genotypes for the unaffected individuals are codes that are allele’s code m for recessive normal individuals. 4. For the genotypes of affected individuals must have at least one M.
Or affected individuals must have H on an X chromosome. 5. Possibilities are offspring are 1 and 2 : Heterozygote (Mm) or homozygous for M.
They both need to be heterozygotes. The M comes from the mother and the m comes from the father. 6. I would recommend the couple to see an Hemophilia specialist and follow proper care and instructions given by their doctors. With medications and treatments the family will gain trust in their doctors. 7. The incidence of this conditions is an inherited bleeding disorders

Works Cited

Web Sites http:/emedicine.medscape.com/article http://www.ncbi.nlm.nih.gov/books/NBK http://www.ncbi.nlm.nih.gov./books/NBK http://