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Sickle cell disease Sickle Cell Disease is a life threatening genetic disorder that can currently only be cured by use of bone marrow and stem cell transplantation. Screening of hemoglobin-S and subsequent testing makes diagnosis certain for the nurse practitioner. Contraception can be challenging in this group of patients and warrants careful considerations. In addition to the clinical needs of patients with Sickle Cell Disease, attention and support to age and developmental stages of patients is warranted. A. Sipkes Donato, DNP, APRN, FNP-C, K. Demonbreun, DNP, RNC-OB, WHNP-BC, ANP-C, C.O. Durham, DNP, FNP-C and T.H. Williams, DNP, APRN, CPNP-C
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Introduction
Diagnosis
Sickle cell disease (SCD) is a life threatening genetic disorder that affects approximately 90,000 to 100,000 individuals in the United States (Centers for Disease Control and Prevention [CDC], 2015). SCD is a chronic hematological disorder characterized by sickle erythrocyte, medial vascular occlusion and hemolytic anemia. It is caused by a mutation in the hemoglobin-beta gene found on chromosome 11 (National Human Genome Research Institute, 2011). The normal adult hemoglobin (Hb A) is partially or completely replaced by abnormal sickle hemoglobin (Hb S). For example when oxygen tension is lowered – after exertion, during anesthesia, or at very high altitudes, this substitution leads to an abnormal linking reaction causing development of crescent-shaped cells. Currently the only cure for SCD is bone marrow and stem cell transplantation.
Neonatal Screening should be performed on all neonates that are considered high risk; this includes those infants of African, Mediterranean, Middle Eastern, Indian, Caribbean and those of Central and South American descent (American Academy of Pediatrics 2002, Bain 2011). Neonatal screening is generally done via heel stick or cord blood testing with subsequent electrophoresis, thin-layer isoelectric focusing, or high performance liquid chromatography (HPLC) and may vary by state. Results related to sickle cell trait or disease may present as the following: heterozygous or homozygous and compound heterozygous (American Academy of pediatrics, 2002). Heterozygous individuals are positive for sickle cell trait and these individuals have a benign and asymptomatic presentation. Homozygous and compound heterozygous individuals are
DÉ VERPLEEGKUNDIG SPECIALIST | JAARGANG 9 | HERFST 2015
Kennis & wetenschap
screening for hemoglobin-S
apparant AS
solubility testing
apparant SS or compound heterozygote
unknown variant
solubility testing & HLPC, CAM, electrophoresis
solubility testing to exclude double mutation
Figure 1 Algorithm approach (Bain, 2011)
symptomatic. There are four genotypes in these individuals that account for the majority of SCD in the United States, these include the following: Sickle Cell Anemia (HbSS), Sickle Cell C Disease (HbSC), and two types of Sickle B-thalassemia. (American Academy of Pediatrics, 2002) There are less common forms that practitioners in other countries need to be aware of and these are caused by coinheritance of HbS with other forms or hemoglobin variations such as Hb D-Punjab, Hb O-Arab, SLepore, and Hb-E (Old, 2003).
SSD lab values TYPICAL PRESENTATION: HCT 20-29% Hgb 6-10 g/dl Reticulocyte count 5-15% Normal or increased WBC and platelets MCV > 80 fL and MCHC > 37 mg/dl Screening results indicate predominance of Hgb S and no Hgb A Morphology: sickled cells, Howell Jolly bodies, nucleated RBS’s (Burns et al., 2013)
DÉ VERPLEEGKUNDIG SPECIALIST | JAARGANG 9 | HERFST 2015
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For infants in who the screening test is positive, confirmatory testing should be completed. The confirmatory testing includes cellulose acetate membrane electrophoresis at alkaline pH (CAM, capillary electrophoresis and/or HPLC (American Academy of Pediatrics, 2002; Bain, 2011). Solubility testing does not differentiate between SCD and sickle cell trait and therefore should not be used in diagnosis of SCD.
Complications In SCD, thrombosis and infarction caused by vaso-occlusion of large and small vessels by crescent shaped cells often result in acute and chronic organ damage. Complications frequently affecting the pediatric and adult SCD population are anemia, vaso-occlusive pain episodes, febrile episodes, cerebrovascular accident, acute splenic sequestration, acute chest syndrome, pulmonary hypertension, aplastic crises, cholelithiasis, priapism, dactylitis, sickle retinopathy, renal disease and leg ulcers. Pain episodes, also known as Sickle Cell crises, are very common and thought to be the result of tissue ischemia caused by occlusion of the vascular beds with sickle erythrocytes. Acute pain episodes may be mild to severe and involve the chest, back, abdomen and extremities. Pain management should be consistent, aggressive, and made to meet the needs of the individuals. Educating the patient and their families about the disease and providing supportive care are the goals of long-term management. Teaching regarding avoidance of Sickle Cell crises is very important for nurse practitioners to do with their patients. Pharmacological management of pain associated with SCD consists of nonsteroidal anti-inflammatory drugs (NSAIDS), opioids and other pain medications. A study on complementary therapies done by Sibinga et al. (2006) found that parents did use complementary therapies with their SCD children. Prayer, spiritual healing and/or energy healing were most often used. Other therapies used were relaxation techniques, exercise, diet and/or imagery, herbs, megavitamin, folk remedies, massage and biomechanical CAM therapy. Because pain is a major characteristic of SCD, it needs to be assessed at every visit.
Sexuality and reproductive concerns Women with SCD live well into the reproductive years to an average age of 42. With fifty percent of all pregnancies being unintended, black and Hispanic women have considerable higher rates of unintended pregnancy when compared to white women (Dehlendorf et al., 2014). Reproductive aged hete-
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DÉ VERPLEEGKUNDIG SPECIALIST | JAARGANG 9 | HERFST 2015
rosexual women with SCD who are sexually active are at threat for unintended pregnancy. Pregnancy poses major health issues and is associated with increased risks for adverse health events (CDC, 2010). Evidence suggests that vaso-occlusive crisis occur more often in pregnancy and is the most common maternal complication associated with pregnancy in patients with SCD (Parrish & Morrison, 2013). Pregnancy holds serious consequences for both mother and fetus. Maternal problems during pregnancy result from chronic organ sequela predominately to the renal and pulmonary systems, acute complications from vaso-occlusive crisis, acute chest syndrome and other pregnancy related complications. Repetitive insults to the kidneys manifest as hypertension, placental ischemia, pre-eclampsia and eclampsia. Fetal consequences include placental insufficiency, allo-immunization, opioid exposure, fetal growth retardation and preterm delivery ( James, 2014). Not surprising given the magnitude of these problems, pregnancy is a significant contributor to maternal death representing a six fold increased risk in SCD patients (de Montalembert, 2015). All women of reproductive age should receive pre-conceptual counseling and women with chronic illnesses are no exception. SCD is an autosomal recessive disease, which can effect 25% of a couples offspring. With this in mind, nurse practitioners who provide care to women with SCD can prevent negative outcomes and impact the quality of life for these women by serving as partners in developing management plans based on evidence-based information. Educating women on the risks and benefits of appropriate contraceptive methods is another service nurse practitioners can provide for women with SCD. Because SCD predominately affects black and Hispanic women, contraceptive education is imperative based on data indicating young women with SCD are less likely to use contraception despite elevated numbers of adolescent pregnancies (Dehlendorf et al., 2014; O’Brian et al., 2011). To aid the clinician with the highest educative information, the literature demonstrates an array of high-level evidence in the form of systematic reviews regarding the efficacy and safety of hormonal contraception use in women with SCD (Haddad et al., 2012; Legardy & Curtis, 2006; Manchikanti et al., 2012). One useful reference to assist providers in counseling women on appropriate contraception options is the U.S. medical eligibility criteria for contraception use, 2010. This report provides four categories of medical eligibility criteria (MEC) for contraception use. Ca-
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tegory 1 represents conditions for which there is no restriction for using the contraceptive method; category 2 represents a condition for which the advantages of using the method generally outweigh the theoretical or proven risk; category 3 is a condition for which the theoretical or proven risks usually outweigh the advantages of using the method; and category 4 being a condition that represents an unacceptable health risk if the contraceptive method is used (CDC, 2010). Specific to the condition of SCD, the barrier methods, which include condoms, spermicides, diaphragms and caps are category 1. The progestin only methods, which include pills, injections and implants, are also category 1. The combined (estrogen and progestin) hormonal contraceptives inclusive of the pill, patch and ring are category 2, and the levonorgestrel (progestin) releasing intrauterine device is a category 1 while the copper intrauterine device is a category 2. Utilizing these methods and categories can be of great benefit to the nurse practitioner that is assisting the patient in the decision making process toward minimizing the risks of unintended pregnancy.
Psychosocial impact Much like any other chronic condition, SCD impacts psychosocial functioning in addition to the physical burden of disease. The chronicity of SCD is believed to contribute to impairment in quality of life (Bennett, 2005; van den Tweel et al., 2008). Overall, patients with SCD have poorer health status, academic problems, and are hospitalized more frequently, when compared with their African American peers (Boulet et al., 2010; Edwards et al., 2005). According to Anie et al. (2010) psychosocial consequences are mainly the result from the impact of pain and symptoms. Researchers have found that vaso-occlusive crises can be triggered by physical and emotion stress (Edwards et al., 2005; Westerdale & Jegede, 2004). Likewise, patients may experience depression and other psychosocial symptoms resulting from the chronicity of pain frequency and intensity (Bennett, 2005). This can become a viscous cycle resulting in psychosocial maladjustment. Depressive symptoms such as sadness, guilt, hopelessness and helplessness are commonly reported in SCD patients. Among children suffering from SCD several indicators of poor psychological adjustment (including emotional and behavioral problems, disturbed or altered sexuality, poor image and self-concept, poor social and interpersonal functioning and social withdrawal) may be observed (Edwards et al.,
2005, p. 174). Depressive symptoms can present as low academic performance, which was traditionally inaccurately labeled as lack of effort, or a biologically based gap in achievement. More recent literature describes low achievement as being effected by social isolation, limited interpersonal skills and deprived academic experience. Karlson et al. (2012) found older child age to be associated with greater risk for psychosocial distress. Adolescents are normally adjusting to the developmental stage of identity versus role confusion. It is a period challenged with navigating sexual maturation, forming intimate, loving relationships with other people and becoming independent. Peer relationships are critical during this time for social, emotional and psychological development (Musumadi et al., 2012). The adolescent with SCD is challenged with extended hospitalizations and illness, frequent medical appointments and lifestyle restrictions which complicates the ability to form essential and fulfilling relationships. Biologically, SCD effects growth and sexual development, lowering the adolescent’s self-confidence and interpersonal skills (Edwards et al., 2005; Musumadi et al., 2012; Pinckney & Stuart, 2004). Compared to children and adolescents with SCD, fewer studies have examined psychosocial functioning of adults. However, adults with SCD can experience negative thinking and difficulty coping with the disease. Similar to children, adults experience increased depression, employment difficulties and psychosocial morbidity when faced with psychosocial challenges. Independent of the patient’s age and developmental stage, an interruption in the natural process of development can disrupt psychosocial functioning (Edwards et al., 2005; Musumadi et al., 2012). Resiliency factors in African American families such as faith, spirituality, extended family networks, reciprocity and role flexibilities, can protect against psychological distress. Likewise, faith in family, physicians and spiritual community help the adolescent with SCD cope against psychosocial stresses (Karlson et al., 2012). In addition to the clinical needs of patients with SCD, attention and support to age and developmental stages of patients living with SCD is warranted. Patients are at great risk for adjustment disorders, with or without chronic disease. Promoting effective psychosocial development is especially important for the patient with SCD. Assessment and care management should include aspects to improve self-esteem,
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social, emotional and psychosocial development. SCD is a complicated illness and as a nurse practitioner we can have a positive impact on patient’s lives by correctly diagnosing, assessing for psychosocial development and educating about complications and pain at every visit.
Annemarie Sipkes Donato is assistant professor, Kahlil Demonbreun is instructor, Catherine Durham is assistant professor and Tiffany Williams is assistant professor, all at the Medical University of South Carolina.
References • American Academy of Pediatrics, Committee on Genetics (2002) Health supervision for children with sickle cell disease. Retrieved from http://pediatrics.aappublications.org/content/109/3/526. full.pdf+html. • Anie, K.A., Egunjobi, F.E. & Akinyanju, O.O. (2010). Psychosocial impact of sickle cell disorder: perspectives from a Nigerian setting. Global Health, 6, 2. • Bain, B.J. Haemoglobinopathy diagnosis: Algorithms, lessons and pitfalls. Blood Rev. 2011;25(5):205-13. • Bennett, L. (2005). Understanding sickle cell disorders. Nursing Standard, 19(32), 52-61; quiz 62. • Boulet, S.L., Yanni, E.A., Creary, M.S. & Olney, R.S. (2010). Health status and healthcare use in a national sample of children with sickle cell disease. American Journal of Preventive Medicine, 38(4 Suppl), S528-35. • Burns, C., Dunn, A., Brady, M., Starr, N., Blosser, C. Hematologic disorders. In: Garzon D, ed. Pediatric primary care. 5th ed. Philadelphia, PA: Elsevier; 2013: 575-7. • Centers for Disease Control and prevention (2015). Sickle cell disease. Retrieved from www.cdc.gov/ncbddd/sicklecell/data. html. • Centers for Disease Control and Prevention. (2010). U.S. medical eligibility criteria for contraception use, 2010. Retrieved from www.cdc.gov/mmwr/pdf/rr/rr59e0528.pdf. • Dehlendorf, C., Park, S.Y., Emeremni, C.A., Conner, D., Vincett, K. & Borrero, S. (2014). Racial/ethnic disparities in contraception use: variation and women’s reproductive experience. American Journal of Obstetrics & Gynecology, 210(6), 526.e1-9. • Montalembert, M. de (2015). Pregnancy in sickle disease is as very high risk. Blood, 125(21), 3216-7. • Edwards, C.L., Scales, M.T., Loughlin, C., Bennett, G.G., Harris-Peterson, S., De Castro, L. M., Whitworth, E. et al. (2005). A brief review of the pathophysiology, associated pain, and psychosocial issues in sickle cell disease. International Journal of Behavioral Medicine, 12(3), 171-9. • Haddad, L.B., Curtis, K.M., Legardy-Williams, J.K., Cwiak, C. & Jamieson, D.J. (2012). Contraception for individuals with sickle cell disease: A systematic review of the literature. Contraception, 85(6), 527-37. • Legardy, J.K. & Curtis, K.M. (2006). Progestogen-only contraceptive use among sickle cell anemia: A systematic review. Contraception, 73(2), 195-204.
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• James, A.H. (2014). Sickle cell disease in pregnancy. Contemporary OBGYN.Net, 24-30. Retrieved from http://contemporaryobgyn.modernmedicine.com/contemporary-obgyn/news/ sickle-cell-disease-pregnancy?page=full. • Karlson, C.W., Leist-Haynes, S., Smith, M., Faith, M.A., Elkin, T.D. & Megason, G. (2012). Examination of risk and resiliency in a pediatric sickle cell disease population using the psychosocial assessment tool 2.0. Journal of Pediatric Psychology, 37(9), 1031-40. • Manchikanti, G.A., Grimes, D.A., Lopez, L.M. & Schulz, K.F. (2012). Steroid hormones for contraception in women with sickle cell disease (Review). Cochrane Database Systematic Review, 2, 1-12. • Musumadi, L., Westerdale, N. & Appleby, H. (2012). An overview of the effects of sickle cell disease in adolescents. Nursing Standard, 26(26), 35-40. • National Human Genome Research Institute. (2011) Learning about sickle cell disease. Retrieved from www.genome. gov/10001219. • O’Brien, S.H., Klima, J., Reed, S., Chisolm, D., Schwarz, E.B. & Kelleher, K.J. (2011). Hormonal contraception use and pregnancy in adolescents with sickle cell disease: Analysis of Michigan Medicaid claims, Contraception, 83(2), 134-7. • Old, J.M. Screening and genetic diagnosis of haemoglobin disorders. Blood reviews JID-8708558. 2003(0268-960; 0268-960). • Parrish, M.R. & Morrison, J.C. (2013). Sickle cell crisis and pregnancy. Seminars in Perinatology, 37(4), 274-9. • Pinckney, R.B. & Stuart, G.W. (2004). Adjustment difficulties of adolescents with sickle cell disease. Journal of Child and Adolescent Psychiatric Nursing, 17(1), 5-12. • Sibinga, E.M., Shindell, D.L., Casella, J.F., Duggan, A.K. & Wilson, M.H. (2006). Pediatric patients with sickle cell disease: use of complementary and alternative therapies. Journal of Alternative Complementary Medicine 12(3), 291-8. • Steinberg, M. (1999). Management of sickle cell disease. Drug Therapy, 340 (13) 1021-30. • Tweel, X.W. van den, Hatzmann, J., Ensink, E., Lee, J.H. van der, Peters, M., Fijnvandraat, K. & Grootenhuis, M. (2008). Quality of life of female caregivers of children with sickle cell disease: a survey. Haematologica, 93(4), 588-93. • Westerdale, N. & Jegede, T. (2004). Managing the problem of pain in adolescents with sickle cell disease. Professional Nurse, 19(7), 402-5.
