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Running head: Sickle cell anemia

Sickle Cell Anemia

Christina L. Vidrich
University of St. Mary

Running head: Sickle cell anemia

Abstract: This paper explores the genes that are believed to cause sickle cell anemia (SCA) and
sickle cell traits (SCT). It looks at how those genes are passed from parents to children and
discusses the prevalence of SCA and SCT in different cultures. Also discussed are ways that
patients diagnosed with this disease can cope in order to live the fullest lives possible without
being limited due to this disease.

Running head: Sickle cell anemia

Sickle cell anemia (SCA) disease refers to a collection of genetic blood disorders
characterized by hemoglobin variant called HbS. SCA is an autosomal (single gene), recessive
disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome
11p15.5 (Nitin, 2010). It is prevalent with approximately 8% of African Americans being carriers
(Nitin, 2010). A mutation in HBB results in the production of structurally abnormal hemoglobin
called HbS. HbS is an oxygen carrying protein that gives red blood cells (RBC) their
characteristic color. Under certain conditions, like low oxygen levels or high hemoglobin
concentrations, in individuals who are homozygous for HbS, the abnormal HbS clusters together,
distorting the RBCs into sickled shapes. These deformed and rigid RBCs become trapped within
small blood vessels and block them, producing pain and eventually damaging organs (Nitin,
2010). Cardinal symptoms are hemolytic anemia, painful episodes, and susceptibility to
infection. SCA is characterized by episodes of pain, chronic hemolytic anemia and severe
infections, usually beginning in early childhood (Nitin, 2010).
Epidemiological data shows that the highest incidence of SCA is in sub-Saharan Africa
where the severest forms are often fatal in children under the age of 5 years (Tshilolo, Kafando,
Sawadogo, Cotton, Vertongen, Ferster & Gulbis, 2008). Sickle cell anemia is the most common
inherited blood disorder in the United States, affecting about 72,000 Americans or 1 in 500
African Americans (Nitin, 2010). SCA is an inherited autosomal recessive disorder characterized
primarily by chronic anemia and periodic episodes of pain. Individuals who possess one copy of
the normal beta globin gene (HbA) and one copy of the sickle variant (HbS), are referred to as
having the sickle cell trait (SCT), but these individuals do not express symptoms of sickle cell
disease.

Running head: Sickle cell anemia

Genetic testing available for the disorder is done by screening newborns that have a
mother with a sickle cell or hemoglobin C trait. Screening should be preferentially organized
using cord blood with a simple yet effective and affordable screening method like isoelectric
focusing. If necessary, confirmation of results should be performed using another cost-effective
technique such as citrate agar electrophoresis at an acidic pH (Tshilolo, Kafando, Sawadogo,
Cotton, Vertongen, Ferster & Gulbis, 2008). When both parents have SCT, there is a one in four
chance the offspring will inherit the normal hemoglobin genotype (Hb AA), two in four chance
the offspring will have sickle cell trait (HbAS), and a one in four chance the offspring will inherit
sickle cell anemia (Brown 2012).
SCA is an inherited blood disorder and affects 1 in 500 African Americans (Tshilolo,
Kafando, Sawadogo, Cotton, Vertongen, Ferster & Gulbis, 2008). It is prevalent among people
whose ancestors come from sub-Saharan Africa, Spanish-speaking regions like South America,
Cuba, Central America, Saudi Arabia, Oman, India, and Mediterranean countries such as Turkey,
Greece, and Italy (Nitin, 2010).
Early intervention is important with the patient presenting sickle cell disease symptoms.
Management should include infection prophylaxis with penicillin and malarial prophylaxis,
family training to identify early, severe, or persistent symptoms, and the gravity of malarial
crises, the evaluation of nutritional status and adequate fluid intake, and the importance of
regular medical visits. Improved knowledge of the diagnosis was found to reduce the need for
unnecessary and unsafe blood transfusions (Tshilolo, Kafando, Sawadogo, Cotton, Vertongen,
Ferster & Gulbis, 2008). Pain control is a big issue for these patients; non-pharmacological
approaches could also be considered such as watching TV or music therapy. Any method that the

Running head: Sickle cell anemia

nurse finds helpful should be used and of course the use of opioids, analgesics, and NSAIDS are
prescribed for pain management (Brown, 2012).
People with SCD can live full lives and enjoy most of the activities that other people do.
There are things that people SCD can do to stay as healthy as possible; they can get regular
checkups to prevent infections. Illnesses like the flu can quickly become dangerous for a child
with SCD. The best defense is to take simple steps to help prevent infections (Nitin, 2010).
People with SCD should drink 8 to 10 glasses of water every day and eat healthy food. They also
should try not to get too hot, too cold, or too tired. Finding a patient support group or community
can be beneficial for the patient. There is no cure for SCA; a combination of fluids, painkillers,
antibiotics, and transfusions are used to treat symptoms and complications. SCD is manifested by
episode Hydroxyurea, an antitumor drug that has been shown to be effective in preventing
painful crises. Hydroxyurea induces the formation of fetal Hb (HbF)a Hb normally found in
the fetus or newbornwhich, when present in individuals with SCA, prevents it. A mouse model
of SCA has been developed and is being used to evaluate the effectiveness of potential new
therapies for SCA (Nikin, 2010). Most people with the disease learn to cope and function in their
daily lives. It is helpful to encourage the patient and help them keep a positive attitude.

References

Running head: Sickle cell anemia

Brown, M. (2012). British journal of nursing. Managing the acutely ill adult with sickle cell
disease, 21(2), 90-96.
Nitin, J. (2010). A review of clinical profile in sickle cell traits. Oman Medical Journal, 25(1), 18. Retrieved from
http://www.omjournal.org/ReviewArticle/PDF/201001/Review_OF_Clinical.pdf
Tshilolo, L., Kafando, E., Sawadogo, M., Cotton, F., Vertongen, F., Ferster, A., & Gulbis, B.
(2008). Neonatal screening and clinical care programmes for sickle cell disorders in subsaharan africa: lessons from pilot studies. Public Health, 9(122), 933-941.