Sickle Cell Disease

Fig. 1. (Underhill, 2016)

Phenotype - Sickle Cell
◦ Babies as early as 4 months old (usually 6 months) are the first to show symptoms (Healthline,
2017).
◦ Fetal hemoglobin (Hbf) protects RBC’s from sickling for the first months of life (Berry, Workman, &
Eggert, 2018).
◦ Affects males and females equally (Healthline, 2017).
◦ Transmission risk when both parent have sickle cell trait (SCT) (CDC, 2017).
◦ 50% chance the child will have Sickle cell trait.
◦ 25% chance the child will have Sickle cell disease.
Signs and Symptoms
◦ Episodes of pain
◦ Swelling in hands and/or feet
◦ Frequent infections
◦ Vision problems
◦ Delayed growth Fig 2. (Al-Salem, 2016)

◦ Excessive fatigue or irritability, from anemia

◦ Fussiness, in babies
◦ Jaundice

Fig 3. (Sangopan, 2016)

(Mayo Clinic, 2018)
(Healthline, 2017)
 Punnett Square
The sickle cell anemia trait is found on a recessive
allele of the hemoglobin gene. You must have two
copies of the recessive allele, one from your father and
one from your mother, to have the condition (Seladi- Fig 4. (URMC, 2009)

Schulman, 2019).

AS - trait/carrier
AA AS
AA - Usual (no sickle cell)
SS - Unusual (sickle cell)

AS SS
Family Questions
◦ What is sickle cell disease
◦ Sickle cell disease (SCD) and its variants are genetic disorders resulting from the presence of a
mutated form of hemoglobin, hemoglobin S (HbS). The most common form of SCD found in
North America is homozygous HbS disease (HbSS), an autosomal recessive disorder. . Morbidity,
frequency of crisis, degree of anemia, and the organ systems involved vary considerably from
individual to individual (Maakkaron, 2019).
◦ How common is sickle cell disease?
◦ 300,00 babies are born world wide with some form of the disease. One out of every 2,000 babies
born in the U.S. has some form of the disease and approximately 100,000 in the U.S. are living
with sickle cell disease (Fisher, 2016).
◦ How can I prevent complications of sickle cell disease?
◦ Keep up to date on vaccinations including: Haemophilus influenza, pneumococcal,
meningococcal, hepatitis B, and influenza. Some patients may receive antibiotics to prevent
infections. Get enough oxygen, drink plenty of fluids, avoid getting over-heated or getting very
cold, and see a primary care physician (Fisher, 2016).
Family Questions
◦ What are some important facts about sickle cell disease?
◦ Diagnosis of sickle cell disease can only be determined by a special blood test. Many people
with sickle cell disease live long and productive lives. Many adolescents with sickle cell
disease experience delayed puberty (the average delay is about two years). Yellowing of the eyes
is common and should not be confused with hepatitis. The use of alcohol, "street drugs," and
tobacco can greatly increase the risk of developing serious complications (Fisher, 2016).
◦ How is sickle cell disease treated?
◦ There is no single best treatment for all people with SCD. Treatment options are different for
each person depending on the symptoms. Treatments can include receiving blood transfusions,
maintaining a high fluid intake (drinking 8 to 10 glasses of water each day), receiving IV
(intravenous) therapy (fluids given into a vein) and medications to help with pain (CDC, n.d.).
◦ Who gets sickle cell disease?
◦ Sickle cell disease can affect persons of any racial or ethnic background although in the U.S.
African Americans are most likely to have the disease (Fisher, 2016).
Ethical and Religious Considerations
◦ Ethical Considerations
◦ Preimplantation genetic diagnosis (PGD) ◦ Religious Considerations
◦ Procedure used to identify genetic defects within embryos.
◦ Created during the process of  in vitro fertilization (IVF). ◦ Jehovah witness
◦ Destruction of embryos (APA, 2019)
◦ Prenatal testing
◦ Believes that God commands
◦ Amniocentesis them to abstain from blood.
◦ Sampling of the amniotic fluid.
◦ Carried out between 16 to 18 weeks of pregnancy. ◦ Blood transfusion may help
◦ Risk of miscarriage, about 1 in 100 (SCS, n.d).
◦ Chorionic Villus Sampling (CVS) to deliver oxygen to the
◦ Sampling of the placenta.
◦ Carried out at 9 or 10 weeks.
body, unblock blood vessels,
◦ It is a relatively new test and there is not so much and treat anemia (St. Jude,
information on reliability.
◦ Slightly higher risk of miscarriage than amniocentesis 2008).
(SCS, n.d).
Cultural and Financial Considerations
◦ Cultural Considerations
◦ African American (most affected group in
the U.S.)
◦ Because the majority of patients in the
U.S. with SCD are of African descent,
most SCD patients are subject to the same
biases, stereotypes, and other attitudinal
factors that contribute to the problems of
racial and ethnic inequalities in health care
that have long been observed to be a
problem in the U.S. healthcare system”
(Haywood, 2013, para. 2).
◦ Language barrier
◦ For those whom English is not the primary
language, care could be delayed or inadequate.
◦ Financial Considerations
◦ This condition is associated with
chronic pain and disability, changes in
employment or loss of employment
may occur.
◦ Care and treatment for SCD can be
costly.
◦ Parents may lack health insurance or
have high deductibles.
◦ Modifications may need to be made to
the home to prevent a crisis (i.e..
central air in hot climates).
Referrals
Molecular Genetics Laboratory at Cincinnati Children’s Hospital
Cytogenetics / Molecular Genetics Lab
3333 Burnet Ave.
NRB 1042
Cincinnati, OH 45229-3039
Phone: 513-636-4474
Sickle Cell Alliance Foundation
6225 Colerain Ave., Suite B
Cincinnati, OH 45239
Phone: 513-813-7223
Urban League of Greater Southwestern Ohio
Cincinnati Office
3458 Reading Road
Cincinnati, OH 45229
Phone: 513-281-9955
Fig 5. (Kassam,
2018)
References
◦ Al-Salem A. (2016) The Hand-Foot Syndrome in Patients with Sickle Cell Anemia. In: Medical and Surgical
Complications of Sickle Cell Anemia. Springer, Cham
◦ Beery, T., Workman, M., & Eggert, J. (2018). Patterns on Inheritance. In T. Beery, M. Workman, & J. Eggert
(Eds.), Genetics and Genomics in Nursing and Health Care, (pp.70-93). Philadelphia, Pennsylvania: F.A. Davis
Company
◦ cdc.gov. (n.d.). Retrieved from https://www.cdc.gov/ncbddd/sicklecell/documents/SCD-factsheet_What-is-
SCD.pdf
◦ Fisher, K. A. (2016, December 5). Patient Education. Retrieved from https://www.hopkinsmedicine.org/
Medicine/sickle/patient/index.html
◦ Haywood, C. (2013). Disrespectful care in the treatment of sickle cell disease requires more than ethics
consultation. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698957/
◦ Kassam, Z. (2018). Correcting sickle cell–causing mutation with CRISPR-Cas9. Retrieved from
https://www.drugtargetreview.com/news/34037/correcting-sickle-cell-crispr/.
◦ Preimplantation Genetic Diagnosis: Benefits & Concerns. (2019, September 12). Retrieved from
https://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/
◦ Neonatal Jaundice: Postnatal Care & Baby Massage Services at Home. (2016, November 24). Retrieved from
http://www.sangopan.com/neonatal-jaundice/.
References
◦ Preimplantation Genetic Diagnosis: Benefits & Concerns. (2019, September 12). Retrieved from
https://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/
◦ Red Blood Cell Transfusions for Sickle Cell Disease. (n.d.). Retrieved from
https://www.stjude.org/content/dam/en_US/shared/www/patient-support/hematology-literature/red-blood-cell-
transfusions-for-sickle-cell-disease.pdf.
◦ Sickle cell anemia. (2018, March 8). Retrieved from https://www.mayoclinic.org/diseases-conditions/sickle-cell-
anemia/symptoms-causes/syc-20355876
◦ Sickle cell anemia. (2017, March 29). Retrieved from https://www.healthline.com/health/sickle-cell-anemia
◦ Sickle Cell: It’s Your Choice. (2009). Retrieved from
https://www.urmc.rochester.edu/medialibraries/urmcmedia/ob-gyn/reproductive-genetics/documents/sicklecell.pdf.
◦ Seladi-Schulman, J. (2019, January 25). Sickle Cell Anemia: Recessive/Dominant? Autosomal/Sex-Linked.
Retrieved from https://www.healthline.com/health/sickle-cell-dominant-or-recessive#dominant-vs.-recessive
◦ Testing Your Baby for Sickle Cell During Pregnancy " Sickle Cell Society. (n.d.). Retrieved from
https://www.sicklecellsociety.org/resource/testing-baby-sickle-cell-pregnancy/
◦ Underhill, A. (2016, June 23). 9 Things You Didn't Know About Sickle Cell Disease. Retrieved from
https://health.usnews.com/wellness/slideshows/9-things-you-didnt-know-about-sickle-cell-disease?slide=2
◦ What is Sickle Cell Trait? | CDC. (2017, August 9). Retrieved from
https://www.cdc.gov/ncbddd/sicklecell/traits.html