Sickle cell anemia is an inherited blood disorder that cause the abnormal formation of the hemoglobin protein in red blood cells (Nih). Hemoglobin is an essential protein that resides within the red blood cells supplying oxygen to the entire body. Hemoglobin S causes a mutation in shape of hemoglobin protein causing a group of blood disorders including sickle cell anemia and thalassemia. Sickle cell anemia is a result of one abnormal hemoglobin S gene given to a child by each parent, children that inherit two abnormal hemoglobin S genes express the sickle cell anemia trait (NIH).
Every cell in the body requires oxygen, those that suffer from sickle cell anemia have difficulty supplying oxygen to vital organs including the heart and lungs. The sickle or crescent like shape of the hemoglobin protein yields the name given to the disorder. This mutation of the hemoglobin protein limits the amount of oxygen the protein is able to contain, causing the limited ability to supply oxygen to the body. Poor oxygenation to vital organs cause ischemic episodes leading to damage of the organs over time.
Sickle cell anemia puts patients at risk for a variety of disorders including cerebrovascular accident (CVA), acute chest pain syndrome, sepsis, and renal insufficiency (Quinn, Rogers). In the United States, the African American population are most effected by the condition. Statistics released by the National Institute of Health approximates that one in thirteen African American babies born in the U. S are born with the sickle cell trait (NIH). Over 200,000 individuals live with the condition in the U.
S (NIH). Although, other demographics are effected by the disease including Hispanics, Asians Indians, and southern Europeans, the majority of the effected remains African Americans. Multiple states including New York, require screening for the disorder at birth in addition to a variety of genetic diseases. Genetic counseling is provided to parents with children diagnosed with the condition in order to provide instruction on the management of symptoms related to the disorder.
Despite the disease being present at birth, the majority of children do not exhibit the ill effects of the condition until approximately four to six months of age (Quinn). Parents are taught to watch for warning signs that include pain and swelling to the upper and lower extremities, increased fussiness, and or acute yellowing of the skin (jaundice). Recognition of early warning signs and routine medical examinations are of the utmost importance when caring for infant with sickle cell anemia.
Advancements in medicine has led to the improvement of management and survival rates for children with sickle cell anemia. With the onset of adolescence, patients with sickle cell anemia have increased ‘attacks’ of pain to the chest, abdomen, and bilateral lower extremities, increased risk of sepsis, and splenic complications. Sickle Cell Crisis is the acute onset of pain due to the decrease in oxygen delivery. Dehydration, illness, and stress contribute to the crisis making early intervention necessary.
Attitudes towards sickle cell anemia in the African American community is unbalanced. Though the disease is most prevalent within this community, research shows a lack of knowledge related to the condition, even by those that possess the disorder. Patients with personal or familial hemoglobin S traits voluntarily participated in a focus group for the research. All were aware of the disorder and its progression, but most showed a lack of initiative in gaining a deeper knowledge of the genetic factors and risk of transmitting the disorder to their offspring (Long, Thomas).
All members of the focus group acknowledged the importance of newborn genetic screening and proper management of symptoms. However, barriers in the level of education and socioeconomic factors of the participants, limited the interest most participants had in the genetic implications related to the condition (Long, Thomas). In large part, socioeconomic factors continue to play a role in the disparity of interest and knowledge that the African American population possesses.
Poor socioeconomics, educational disparities, and socioenvironmental limits, in this community appears to be the direct cause of the lack of desire for knowledge and proper management of symptoms. Urbanicity, ethnicity, cultural values, and racial stigmatization, are important to include in empirical assessments and theoretical analyses of the effects of sickle cell disease on children and their families (Barbarian). Stress related to these factors exacerbate symptoms of the disease. Despite this lack of desire for knowledge, those suffering from the condition do seek care of acute episodes.
Patients seek emergency medical treatment for acute crisis, treatments include hydration therapy, pain medication administration, and blood transfusions if hematocrit and hemoglobin levels (H & H) are below 10 mg/dl /30 mg/dl respectively. Usually, there are no religious restrictions for these patient in receiving transfusions for anemia. Most have received at least one transfusion in their lifetime because of the disorder. However, antibodies begin to develop as a result of multiple blood transfusions. This phenomenon is a delayed serologic reaction do not result in severe clinical outcome in most instances.
Type and screens are obtained from patients with sickle cell anemia especially those presenting with symptoms related to sickle cell crisis. The most important adverse event was hyper hemolysis of the red blood cells, which may be triggered by a transfusion, but was not prevented by matching for RBC antigens (Aygun). In most instances, the cause of hyper hemolysis was multifactorial (Aygun). In 2008, U. S hospitalization for acute crisis leveled at 216 cases with the average length of stay of five days (Okam).
Patients are often hospitalized until blood counts, hydration status improves, and pain is well controlled. I have had the opportunity to care for a patient that suffered an acute sickle cell crisis. The patient presented to the emergency department complaining of widespread pain and malaise. The patient was an eighteen-year-old, African American female that has a long history of acute crisis’ and poor overall health. As I triaged her, she was writhing in pain, but matter of fact with her assessment of the cause of her symptoms.
The patient asserted that her H&H was low, needed IV fluid therapy, and IV pain medications to manage the pain. At the time the patient was being treated for an upper respiratory infection and had been prescribed antibiotics days earlier. Indeed, lab work revealed a decreased in blood counts and dehydration. The patient was medicated for pain, given two units of packed red blood cells, and rehydrated with normal saline. Once the patients’ pain was properly controlled she disclosed to me that she is one of five children raised by her single mother.
She also reported that she was one of two siblings with sickle cell anemia. She was hospitalized numerous times in her eighteen years receiving multiple blood and fresh frozen plasma transfusions. Her knowledge related to the condition was vast. She was aware of the genetic component, and stated that her mother decided to have a hysterectomy after her birth because of the transmission of the disorder to her and her other sibling. She stated that her mother did not have sickle cell, but carried the gene. As the shift progressed, I was in awe at her resilience and strength.
It was remarkable to see how ‘in charge’ this young woman was interacting with the visibly nervous and inexperienced first and second year residents admitting her. In my opinion, this disorder is most troubling to watch and treat in the younger population. These patients will suffer adverse health their entire lives with intermittent crisis’s causing intense pain. However, I insist that continued education and knowledge related to the disease is crucial in order manage symptoms, disease progression, and reproductive implications.
