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Sickle Cell Anemia is caused by a ch age in the gene that tells the body to make an iron-rich compound in red blood cells. Results of this change is anemia, delayed development, swelling of hands and feet, vision problems, and frequent infections. There are less than 200,000 cases per year. The mutation in the HBB gene on chromosome 11 encodes the oxygen carrying protein in red blood cells. Stem cell transplants may cure sickle cell anemia. There are other treatments that include medications and blood transfusions to help relieve pain and also attempt to prevent painful episodes (2).

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Leigh Syndrome is caused by a disease variant in the mitochondria. This disease results in a loss of head control and motor control, delayed development, loss of appetite, vomiting, seizures, and poor sucking ability in infants. Leigh syndrome affect 1 in 40,000 newborns(1). Most individuals will live until z6-7 years old but some may live to their mid-teenage years. Leigh syndrome is developed through maternal inheritance through the mitochondria. Only an affected mother can pass this on to her offspring not an affected father. There is no cure for this but the use of vitamin B1 and thiamine may help(5).

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There is a deletion of part of chromosome 15. The symptoms this produces are developmental delays, intellectual disabilities, frequent smiling and laughing, trouble going to sleep/ staying asleep, and seizures. There are fewer than 200,000 cases per year and does not affect the general life span of the individual. The part of chromosome 15 is the deletion of UBE3A gene (ubiquities protein ligament E3A. The treatments for Angelman syndrome are through anticonvulsants, behavior therapy, and sedatives(3).

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There are 3 copies of chromosome 18 instead of 2. This results in symptoms such as: intellectual disability, low birth weight, small abnormally shaped head, congenital heart defects, developmental delays, a small jaw and mouth, and clenched fists with overlapping fingers, to name a few. 1 in 5,000 live born infants will have the disease. Most infants will not have a year and 50% of affected will not survive and the mother will have a miscarriage. Trisomy 18 is caused by an extra copy of chromosome 18 coming from either the egg or sperm cell. This will happen by chance. There is no know treatment for Trisomy 18 (4).

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All of these disorders have the symptom of delayed development. This meaning that it takes longer for certain aspects of these individuals to develop. This may be brain, external or internal features. Many different disorders can have similar symptoms based on the location of the mutation and also its severity.

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1. [GARD] Genetic and Rare Diseases Information Center. 2016.
Gaithersburg (MD): GARD. Leigh Syndrome; [accessed 2022 Sep 29]. https://rarediseases.info.nih.gov/diseases/6877/leigh- syndrome

2. Mayo Clinic. Rochester (MN): Mayo Clinic. Sickle Cell Anemia; [accessed 2022 Sep 29]. https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/s

yc-20355876

3. Mayo Clinic. 2018. Rochester (MN): Mayo Clinic. Angelman Syndrome; [accessed 2022 Sep

29]. https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621.

4. Minnesota Department of Health. Minnesota: Minnesota Department of Health. Trisomy 18; [accessed 2022 Sep 29].

https://www.health.state.mn.us/diseases/cy/trisomy18.html.

5. National Institute of Neurological and Stroke. Bethesda (MD): National Institute of Neurological and Stroke. Leigh’s Disease; [accessed 2022 Sep 29] https://www.ninds.nih.gov/health-information/disorders/leighs-disease