3 discussion board replies | pathophysiology | Nova Southeastern University

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student 1stephanie

Good Morning Professor Raizer and class, 

Sickle cell disease is an inherited autosomal recessive disorder and chronic hemolytic anemia and that causes spleen dysfunction, heart issues, vision impairment, and most commonly intense pain and swelling to the extremities (Mkombachepa et al., 2022).  According to Eckdahl (2017), sickle cell disease (SCD) is most prevalent in sub-Saharan Africa, Central and South America, the Middle East, India, the Caribbean, and the Mediterranean.  SCD was first recognized in 1910 by a cardiologist James B. Herrick who recognized the sickle shape of the red blood cells (RBC) and coined the new blood disorder as sickle cell disease (Eckdahl, 2017). 

As research expanded, it was clear that many people who had SCD also lived in the above mentioned areas where malaria was a common occurrence.  It became clear that SCD is also an adaptive response against malaria.  The pathogen that causes malaria is plasmodium falciparum, a parasite that is transmitted from mosquitos and invades red blood cells and . Research revealed that patients who had the sickle cell trait had less of the parasite in their blood than others who suffered from malaria and did not carry the trait.  These patients also has less cumbersome symptoms when and if they became infected.  It seems as if the adaptation of the sickle cell trait was possibly due to three different reasons; the acidic environment created by the parasite, destruction of the sickled red blood cells in the spleen, and limited reproduction of the parasite due to export of potassium within the red blood cells (Eckdahl, 2017).  Families with ancestors from these areas are also more often noted to also suffer from sickle cell disease.  However, studies show that those who hold the heterozygotes hemoglobin S gene and carry the HBB allele and one abnormal hemoglobin allele have more resistance for malaria than those who hold the recessive homozygotes hemoglobin gene (Hb SS) (Mkombachepa et al., 2022). Due to the impaired splenic function of those with Hb SS have an increased risk of death from malaria.  This could be due to the removal of the spleen or the destruction of blood cells both infected with the parasite along with normal blood cells which exacerbates the anemia (Mwaiswelo et al., 2020).

While the genetic factor influences the severity of the disease, there are also important environmental factors that patients and families should be mindful of such as weather, air quality and pollutants, severe cold or high temperatures, high altitudes and low oxygen levels all can contribute to exacerbation of SCD (Eckdahl, 2017).  Treatment for mild cases of crisis is usually nonsteroidal anti-inflammagtory drugs which help to alleviate pain and decrease fever.  Drinking a lot of fluids, heating pads, massage and relaxation are good non-pharmacological methods to relieve symptoms during a sickle cell crisis.  Hydroxyurea is used to help increase the level of fetal hemoglobin (HbF) which results in decreased pain and other complications.  Should a patient need to be hospitalized, usual treatment includes oxygen therapy, intravenous fluids and opioids such as morphine or dilaudid to relieve pain (Eckdahl, 2017). 

References:

Eckdahl, T. T. (2017). Sickle cell disease: The evil spirit of misshapen hemoglobin. Momentum Press. http://doi.org/10.5643/9781944749767 (Links to an external site.)

Mkombachepa, M., Khamis, B., Rwegasira, G., Urio, F., Makani, J., & Luzzatto, L. (2022).  High incidence of malaria in patients with sickle cell disease. American Journal of Hematology, 97(1), E380-E381. https://doi.org/10.1002/ajh.26676  (Links to an external site.)

Mwaiswelo, R.O., Mawala, W., Iversen, P.O., de Montalembert, M., Luzatto, L., & Makani, J. (2020). Sickle cell disease and malaria: decreased exposure and asplenia can modulate the risk from Plasmodium falciparum. Malaria Journal, 19(1), 1-5. https://doi.org/10.1186/s12936-020-03212-w

student 2 Zach

Good afternoon, 

Malaria is spread through the bite of a female anopheles mosquito. These mosquitos carry the parasite Plasmodium falciparum, which cause the malaria disease. This disease causes hypoxia in the body, leading to eventual death. In sickle cell disease, many red blood cells (RBC) have a sickled shape, which lead to vaso occlusion, pain, and other symptoms. However, these sickled cells alert macrophages which then attempt to destroy the sickled shape cells, causing anemia. However when it comes to malaria this is an advantage as the macrophages are eliminating RBCs that the immune system would not, assisting with the spread and severity of malaria in the body. This is the reason I believe that the adaptation occurred. Eleonore et al. (2020) showed that patients with sickle cell disease had a lower mortality than patients without it. 

When it comes to why do people who don’t live in malaria-prevalent area continue to develop sickle-cell disease, the answer is simple: genetics. Because sickle cell originated as a response for malaria, a disease prevalent in Africa, this trait was passed through the generations and has continued, despite these patients not living in a malaria-ridden area. 

From a provider perspective it is so important to provide these patients and their families with support throughout treatment or exacerbations, give proper education about the disease, and advise them to adhere to their health regimen that has been given to them (Schlenz et al., 2022). 

References:

Eleonore, N. L. E., Cumber, S. N., Charlotte, E. E., Lucas, E. E., Edgar, M. M. L., Nkfusai, C. N., Geh, M. M., Ngenge, B. M., Bede, F., Fomukong, N. H., Kamga, H. L. F., & Mbanya, D. (2020). Malaria in patients with sickle cell anaemia: burden, risk factors and outcome at the Laquintinie hospital, Cameroon. BMC Infectious Diseases, 20(1), 1–8. https://doi.org/10.1186/s12879-019-4757-x (Links to an external site.)

Schlenz, A. M., Phillips, S. M., Mueller, M., Melvin, C. L., Adams, R. J., & Kanter, J. (2022). Barriers and facilitators to chronic red cell transfusion therapy in pediatric sickle cell anemia. Journal of Pediatric Hematology/Oncology Nursing, 39(4), 209–220. https://doi.org/10.1177/27527530211073874

student 3 wendy

Good afternoon class and professor

Malaria is a parasitic illness caused by Plasmodium, a single-celled parasite. This parasite is transmitted to people, most commonly by mosquito bites (Sato, 2021). Malaria is transmitted to humans by the stings of an infected female Anopheles mosquito. Only Anopheles mosquitos can spread malaria; they must have previously consumed blood from an infected person to become infected. Malaria parasites enter the circulation and settle in the liver. When the parasites reach adulthood, they exit the liver and infect red blood cells. Malaria can be spread by transfusion, transplantation, or sharing infected needles. Because the malaria parasite resides in an affected person’s red blood cells, it poses a significant danger. 

Experts claim that the sickle cell disease gene emerged and departed in the population multiple times before becoming permanently fixed when a severe form of malaria was transferred from animals to people in Asia, the Middle East, and Africa. A mutation in the gene that codes for the beta globin chain of the hemoglobin molecule causes sickle cell anemia (Arishi et al., 2021). The mutation causes sickle-shaped hemoglobin to develop, which has the unusual ability to polymerize upon deoxygenation. 

Sickle cell anemia is still prevalent among persons with ancestors from Sub-Saharan Africa, India, Saudi Arabia, and Mediterranean nations. In the Americas, migration also boosted the frequency of the gene. Due to the scarcity of diagnostic facilities precise data are not available, an estimate suggests that about 80% of the global total of cases are from Sub-Saharan Africa. By comparison, the yearly estimate of affected births in North America is 2600 and 1300 in Europe (Wastnedge et al. 2018). As a result, it occurs through inheritance and migration mechanisms. 

Families with sickle cell anemia should obtain all recommended vaccines. It includes immunization against influenza, coronavirus, pneumococcal, and meningococcal illness, which is especially important for children. Folic acid supplements may be beneficial because they aid in producing new red blood cells. The doctor may prescribe hydroxyurea, blood transfusions to treat and avoid consequences from severe anemia, and stem cell transplants. Patients and caregivers should also educate themselves on the condition, treatment, and potential issues. 

References 

Arishi WA, Alhadrami HA, Zourob M. Techniques for the Detection of Sickle Cell Disease: A Review. Micromachines (Basel). 2021 May 5;12(5):519. doi: 10.3390/mi12050519. PMID: 34063111; PMCID: PMC8148117. 

Sato S. Plasmodium-a brief introduction to the parasites causing human malaria and their basic biology. J Physiol Anthropol. 2021 Jan 7;40(1):1. doi: 10.1186/s40101-020-00251-9. Erratum in: J Physiol Anthropol. 2021 Jan 29;40(1):3. PMID: 33413683; PMCID: PMC7792015. 

Wastnedge E, Waters D, Patel S, Morrison K, Goh MY, Adeloye D, Rudan I. The global burden of sickle cell disease in children under five years of age: a systematic review and meta-analysis. J Glob Health. 2018 Dec;8(2):021103. doi: 10.7189/jogh.08.021103. PMID: 30574296; PMCID: PMC6286674.