How does sickle cell disease affect the world?
How to inherit this condition: Sickle cell diseases is a single gene genetic deformity. The sickle cell disease is a rare blood disorder that is inherited in a baby when 1 copy of the sickle cell gene is inherited from both parents. (NHS Choices) This condition can only be passed hereditarily and as long as one parent has the gene. If one parent has the gene it can still be passed down, but since the non-sickle cell gene is dominant, the baby will not have the condition. It can not be transmitted in any way. Sickle cell diseases originated in Africa thousands of years ago as a genetic mutation to help protect against malaria. (“History of Sickle Cell Disease”) The sickle cell gene comes from a low amount of hemoglobin cell protein in one’s red blood cells. Low hemoglobin it is referred to as Hemoglobin S. (“NCI Dictionary of Cancer Terms”) This is caused by a mutation in the Beta globin gene of the Hemoglobin. Hemoglobin S as in abnormally shaped rigid hemoglobin strands that form red blood cells into a sickle or crescent shape, Opposed to the natural disc shaped blood cells seen in most humans. Since these blood cells are compressed down into a sickle shape, it makes it harder for blood flow, H2O and CO2 to circulate through one’s body. This causes pain and tissue damage. Sickle cells have a shorter life span than regular blood cells making it so anyone with sickle disease is anemic.
Positives: 1. The Sickle cell trait which causes sickle cell disease increases one’s chances of survival against malaria. Malaria is especially high in countries of West Africa Sickle cell disease could actually save your life if you live in a malaria area such as Sierra Leone. 2. There are reliable and high quality treatments for sickle cell disease. 3.The mortality rate for Sickle cell disease has been decreasing over the years. The SCD mortality rate for the period 1999 through 2002 decreased by, 68% at age 0 through 3 years, 39% at age 4 through 9 years; and, 24% at age 10 through 14 years. (CDC) 4. A study published by the CDC states that “Mortality Among Children with Sickle Cell Disease Identified by Newborn Screening During 1990–1994 — California, Illinois, and New York: Among the children with Hb SS disease, 1% died as a result of SCD-related causes during the first 3 years of life.” (CDC) 5. Recently in 2019 the first Stem cell therapy was performed, making so people can be cured from sickle cell disease. 6. Red cross recently launched the sickle cell initiative in 2021 “As the nation’s single largest supplier of blood, the Red Cross aims to increase blood donations from blood donors who are Black to help patients with sickle cell disease and improve health outcomes. Also through the initiative, the Red Cross provides sickle cell trait screening on all donations from self-identified African American donors to provide them with this important health insight.” (“History of Sickle Cell Disease”)
Negatives: 1. All Surgical treatments require Donors, and are risky. (hard to fully cure someone) 2. Most medicines available cause side effects 3. Many health issues including being more prone to fatigue, tiredness, organ tissue damage, severe pain, Leukemia, Stroke, Eye complications, Vaso-occlusive Crisis, Acute chest syndrome, and other various types of organ, joint, and blood vessel damage can occur in the body. 4. Increased utilization of health care services compared to average of people with SCD 5. Decreased social and physical activities of people with SCD. Increased frequencies of psychological distress of people with SCD (Thompson) 6. Expensive to treat “non-elderly lifetime Sickle cell disease -related medical expenses add up to approximately $1.6 million for women and $1.7 million for men. Notably, participants also spent around $44,000 on out-of-pocket expenses.” (News-Medical) 7. Economic disparity makes it so people suffering from sickle cell diseases that are from poor areas struggle to live past age 5, whereas in richer areas they can live up into their 50s (on average) (Chapman and Chapman) 8. Racism and Sickle cell disease have a relationship. Since sickle cell disease disproportionately affects Black people, there has been prejudice and stigma towards the condition. It has been referred to as “Black disease” before. “Black patients wait 25% longer than other ER patients before receiving care.” (“Racism in Sickle Cell: Why Black Lives in the Healthcare System Are Forgotten”)
Effect of condition on people: Sickle cell disease affects roughly 120 million people worldwide, the majority of which are from Africa and India. In these places about 1000 children are born with the disease daily. (Chapman and Chapman) in the whole world roughly 300,000 babies are born with it a year. It is one of the most common genetic diseases in the world. Unfortunately most countries do not have the exact numbers of people impacted by sickle cell disease. Luckily United States health organizations, The CDC and NIH have information about the sickle cell disease numbers in America. There are roughly 100,000 Americans with Sickle cell disease, (Aziza Sedrak and Kondamudi) the majority of which are African Americans. Currently about 1 in 365 African Americans are born with the disease on an annual basis, and about 1 in 16,300 Hispanic American babies are born with it. With this being said 1 in 500 African Americans in the United States are currently living with Sickle cell disease. (CDC) People whose ancestors are from India, Sub Saharan Africa, Hispanic parts of the Americas, parts of the Middle East and the Mediterranean are more likely to have this disease. This disease makes it, so people in low income areas don’t live past childhood, and in high income areas don’t live past their 50s (on average) (Chapman and Chapman) The conditions caused by this disease are very dangerous, and they range from person to person. Overall people who have sickle cell disease are more prone to fatigue, tiredness, organ tissue damage, and severe pain. As a result of these conditions more extreme conditions like Leukemia, Stroke, Eye complications, Acute chest syndrome, Vaso-occlusive Crisis, and other various types of organ, joint, and blood vessel damage can occur in the body, among many more.
Treatments: Here are treatments that help to avoid pain episodes, relieve symptoms and prevent complications. Hydroxyurea (Droxia, Hydrea, Siklos): Reduces pain, and a need for a blood transfusion, increases infection L-glutamine oral powder (Endari): Reduces pain Crizanlizumab (Adakveo): Drug injected into the veins of someone with sickle cell disease, reduces pain frequency. (most effective) however it can cause many side effects such as headache, nausea, joint pain, back pain, spinal cord pain and fever. Voxelotor (Oxbryta): Lowers anemia risk, and strengths blood flow, however it can cause many mild side effects such as headache, nausea, diarrhea, fatigue, tiredness, rash, and fever. In some instances narcotics can also help people suffering from sickle cell Disease. (least effective) For some people in pre adulthood a stem cell transplant might cure the disease. (“Sickle Cell Anemia — Diagnosis and Treatment — Mayo Clinic”) This is the only current complete Cure for Sickle cell disease. Another affective surgery to treat the disease is Blood transfusion.
Pedigree chart of Sickle cell disease. (Chatterjee)
Map of sickle cell disease. (“Study the given Pedigree Chart for Sickle-Cell Anaemia and Select the Most Appropriate Option”)
Effects of Gene therapy on people with sickle cell disease. (Ribeil et al.)
Graph of stem cell treatment vs death rate per age (Sheth and Bhata)
References:
Aziza Sedrak, and Noah P. Kondamudi. “Sickle Cell Disease.” Nih.gov, StatPearls Publishing, 29 Aug. 2022, www.ncbi.nlm.nih.gov/books/NBK482384/.
CDC. “Data & Statistics on Sickle Cell Disease.” Centers for Disease Control and Prevention, 2 May 2022, www.cdc.gov/ncbddd/sicklecell/data.html.
Chapman, Mary, and Mary Chapman. “African Health Ministers Step up Efforts to Improve SCD Care |…” Sickle Cell Disease News, 25 Aug. 2022, sicklecellanemianews.com/news/african-health-ministers-step-up-efforts-to-improve-scd-care-sickle-cell-disease-africa/#:~:text=Some%20120%20million%20people%20globally,from%20infection%20or%20severe%20anemia..
Chatterjee, Rhitu. “Sickle Cell Anemia Is on the Rise Worldwide.” NPR.org, 17 July 2013, www.npr.org/sections/health-shots/2013/07/17/202628070/sickle-cell-anemia-is-on-the-rise-worldwide..
“History of Sickle Cell Disease.” Redcrossblood.org, 2021, www.redcrossblood.org/donate-blood/blood-types/diversity/african-american-blood-donors/history-of-sickle-cell-disease.html#:~:text=Origins&text=Research%20shows%20that%20the%20mutation,major%20cause%20of%20death%20there..
“NCI Dictionary of Cancer Terms.” National Cancer Institute, Cancer.gov, 2022, www.cancer.gov/publications/dictionaries/cancer-terms/def/hemoglobin.
News-Medical. “Study Highlights the Economic Burden Affecting Individuals with Sickle Cell Disease.” News-Medical.net, 16 May 2022, www.news-medical.net/news/20220516/Study-highlights-the-economic-burden-affecting-individuals-with-sickle-cell-disease.aspx#:~:text=Results%20revealed%20that%20non%2Delderly,out%2Dof%2Dpocket%20expenses.
NHS Choices. Causes — Sickle Cell Disease. 2022, www.nhs.uk/conditions/sickle-cell-disease/causes/.
“Racism in Sickle Cell: Why Black Lives in the Healthcare System Are Forgotten.” Sick Cells, 15 July 2020, sickcells.org/blog/racism-in-sickle-cell-why-black-lives-in-the-healthcare-system-are-forgotten/#:~:text=Sickle%20cell%20disease%20also%20disproportionately,cell%20is%20a%20horrific%20condition.&text=Was%20the%20doctor%20well%2Dtrained%20in%20SCD%3F.
Ribeil, Jean-Antoine, et al. “Gene Therapy in a Patient with Sickle Cell Disease.” New England Journal of Medicine, vol. 376, no. 9, Mar. 2017, pp. 848–55, https://doi.org/10.1056/nejmoa1609677.
“Sickle Cell Anemia — Diagnosis and Treatment — Mayo Clinic.” Mayoclinic.org, 2022, www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/diagnosis-treatment/drc-20355882.
“Study the given Pedigree Chart for Sickle-Cell Anaemia and Select the Most Appropriate Option.” Www.youtube.com, www.youtube.com/watch?v=4xvoBoMdG4A. Accessed 29 Nov. 2022.
Thompson, Robert J. “The Interaction of Social, Behavioral, and Genetic Factors in Sickle Cell Disease.” Nih.gov, National Academies Press (US), 2022, www.ncbi.nlm.nih.gov/books/NBK19938/#:~:text=Sickle%20cell%20disease%20pain%20has,et%20al.%2C%201991.
