Sickle Cell Disease, Genetics and Nutrition

The Impact of Genetics on Policy Issues

When dealing with sickle cell disease, it is necessary to pay attention to the impact of genetics on policy issues. The genetic screening and testing of children are typical activities in the process of diagnosing sickle cell disease. However, it is necessary to take into consideration the “best interest” of children when performing these operations (Ross, Saal, David, & Anderson, 2013, p. 234). According to Ross et al. (2013), more and more research studies are dedicated to the clinical and psychological outcomes of genetic testing and screening.

Genetic testing is identical to other medical diagnostic assessment tools when it is done with diagnostic aims. A laboratory technician has to notify a child’s parents or guardians of the probable benefits and damages of the testing procedure (Ross et al., 2013). The benefits incorporate the likelihood of therapeutic or preventive procedures, resolutions concerning surveillance, the simplification of diagnostic and prognostic measures, and the risks of the repeated occurrence of the disease. The medical damages may happen when the child’s parents demonstrate an inappropriate reaction to the test outcomes. These may include trying unverified preventive or therapeutic measures, especially if they are unproductive or may lead to severe adverse consequences (Ross et al., 2013).

One of the greatest risks of some genetic tests is the disclosure of “misattributed parenting” (Ross et al., 2013, p. 235). Apart from that, genetic screening discoveries may be psychologically confusing or life-saving. Positive findings include the establishment of a gene that is associated with preventable cancer. Psychologically challenging results may involve diagnosing a “gene sequence variant” of unidentified clinical relevance (Ross et al., 2013, p. 235). There are several factors that undermine the rationalization of doing genetic testing or screening. Such reasons include the situations when the medical advantages of the results are doubtful, when their realization is postponed, or when the test does not outweigh the possible dangers (Ross et al., 2013). Therefore, genetics has a great impact on policy issues since it may change people’s decision concerning performing the tests.

Nutritional Influences for the Cause of Sickle Cell Disease

Scientists have not succeeded in finding widely accessible treatment methods for sickle cell disease yet. However, many efforts have been paid to analyzing the causes of this serious illness. One of the relatively understudied issues is presented with the nutritional problems associated with sickle cell disease (Hyacinth, Gee, & Hibbert, 2010). Growing interest in this subject has led to a number of research studies focused on looking for the nutritional alternatives as an approach to eliminating morbidity and enhancing the patients’ quality of life (Hyacinth et al., 2010). Scholarly interest in under-nutrition as a severe complication of sickle cell disease started only about three decades ago.

The first significant confirmation of poor macronutrient intake proved by a dietary intervention was made by Heyman et al. in 1985 (Hyacinth et al., 2010). The results of the study performed on growth-retarded children indicated that the addition of calories and nasogastric protein supplements to the participants’ regular diets resulted in growth acceleration and clinical improvements. The findings also demonstrated that whereas mineral and vitamin supplement could not improve the growth of the children, energy and protein supplements had a positive impact on this factor (Hyacinth et al., 2010). Although the study was limited by a rather small sample (only five children), it was a significant contribution to the analysis of the role of nutrition in patients with sickle cell disease. It was proved that malnutrition was one of the aggravations of the illness (Hyacinth et al., 2010).

The most comprehensive data concerning the impact of nutrition on the patients with sickle cell disease is related to micronutrient deficiencies in minerals (iron, zinc, copper, and magnesium) and vitamins (B vitamins, antioxidants, and vitamin D) (Hyacinth et al., 2010). Many scholars dedicate their research to finding the most appropriate approaches to manage malnutrition with the help of interventions (Hyacinth, Adekeye, & Yilgwan, 2013). Both single-nutrient and combined supplementation measures have been proposed. A recent study of vitamin D supplement indicates that children receiving a higher amount of it demonstrate an increase in “serum vitamin D and vitamin D precursor level” (Hyacinth et al., 2013, p. 28). Moreover, research indicates that children in the experimental group have a higher quality of life and a reduced level of pain. Scholars emphasize that combined nutrition is more efficient than single-nutrient supplements are (Hyacinth et al., 2013).

Al-Saqladi, Cipolotti, Fijnvandraat, and Brabin (2008) note that the nutritional status of children with sickle cell disease is highly dependent not only on the genetic background but also on social and environmental factors. Research by Adegoke, Adeodu, and Adekile (2015) supports this observation. According to Adegoke et al. (2015), patients from underdeveloped countries are reported to have more complications associated with sickle cell disease, and their quality of life is much lower than of the children in developed countries. Ansong, Akoto, Ocloo, and Ohene-Frempong (2013) remark that malnutrition is one of the factors contributing to the development of infections in sickle cell disease. In order to eliminate the negative outcomes of the illness in developing countries, scholars suggest educational interventions, vaccinations, and screening (Ansong et al., 2013).

Nutritional Assessment and Counseling

The process of nutritional evaluation and guidance involves the analysis of the patient’s growth retardation (Reid, 2013). In particular, wasting is related to frequent hospitalizations and bad clinical outcomes. The poor growth develops due to escalated metabolic demands and relative hypophagia. These conditions are driven by the resting metabolic rate, the advanced turnover of whole body proteins, and lipid and glucose fluxes (Reid, 2013). Therefore, the assessment and counseling of nutrition-related issues that may impact the choice of screening and diagnostic approaches and preventive and therapeutic methods should involve the mentioned manifestations. Taking care of nutritional evaluation will enable physicians to monitor the effectiveness of treatment and improve patient outcomes.

The Prevalence Rates, Testing, Treatment, and Prognosis

The prevalence rates of sickle cell disease are highest in the people of Hispanic and African-American descent (Hassel, 2010). However, the exact number of the individuals affected by this illness is not known. In Nigeria, the estimated number is 20-30 in every 1000 births (Adegoke et al., 2015). In Africa, 200,000 children are born every year with sickle cell disease (Ansong et al., 2013). The rates in the US that are taken from a report prepared three decades ago amount to 32,000-50,000 newborns (Hassel, 2010). The most promising approach to determining the prevalence rates is the introduction of genetic screening of newborns. Scholars remark that there may be positive changes in the progress of the disease if considerable changes are made in the nutritional choices of patients. In particular, it is noted that it is possible to decrease growth retardation by means of adding specific vitamins and minerals in patients’ nutrition.

References

Adegoke, S. S., Adeodu, O. O., & Adekile, A. D. (2015). Sickle cell disease clinical phenotypes in children from South-Western, Nigeria. Nigerian Journal of Clinical Practice, 18(1), 95-101.

Al-Saqladi, A.-W. M., Cipolotti, R., Fijnvandraat, K., & Brabin, B. J. (2008). Growth and nutritional status of children with homozygous sickle cell disease. Annals of Tropical Paediatrics, 28(3), 165-189.

Ansong, D., Akoto, A. O., Ocloo, D., & Ohene-Frempong, K. (2013). Sickle cell disease: Management options and challenges in developing countries. Mediterranean Journal of Hematology and Infectious Diseases, 5(1), n.p.

Hassel, K. L. (2010). Population estimates of sickle cell disease in the U.S. American Journal of Preventive Medicine, 38(4S), S512-S521.

Hyacinth, H. I., Gee, B. E., & Hibbert, J. M. (2010). The role of nutrition in sickle cell disease. Nutrition and Metabolic Insights, 3, 57-67.

Hyacinth, H. I., Adekeye, O. A., & Yilgwan, C. S. (2013). Malnutrition in sickle cell anemia: Implications for infection, growth, and maturation. Journal of Social, Behavioral, and Health Sciences, 7(1), 23-34.

Reid, M. (2013). Nutrition and sickle cell disease. Comptes Rendus Biologies, 336(3), 159-163.

Ross, L. F., Saal, H. M., David, K. L., & Anderson, R. R. (2013). Technical report: Ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15(3), 234-245.