Understanding Sickle Cell Disease: Causes, Management, and Awareness By: Arwa Baghzali

 Teen Med Spot

29 June 2026

Understanding Sickle Cell Disease: Causes, Management, and Awareness

Anemia is a condition that is developed when the blood in our bodies cannot produce enough healthy red blood cells, meaning your body receives a lower-than-normal amount of oxygen-rich blood. In sickle cell disease – also known as sickle cell anemia – typical disc-shaped blood cells are distorted, often appearing crescent or sickle-like. This disorder is specifically genetic and inherited, and it is known to damage organs and shorten lifespans. Sickle cell disease is a prominent disease worldwide, affecting more than 100,000 people in the United States and roughly 8 million people globally. A shocking finding is that people who inherit only one copy of the sickle cell gene (sickle cell trait) naturally have a significant defense against malaria!

In healthy individuals, blood cells are normally donut-shaped with an indentation in the center while also being flexible so they can easily flow through blood vessels. Hemoglobin is an important molecule throughout the entire circulatory system, as this protein travels internally throughout the blood to deliver oxygen. When red blood cells become “sickle”-shaped due to a hemoglobin gene mutation, they become less flexible and cannot bend easily, blocking blood flow to the rest of the body. The changes in which these misshaped blood cells travel can result in blood clotting, which leads to dangerous and oftentimes life-threatening symptoms such as venous blood clots, swelling, pain and tenderness (not caused by injury), and several more. 

Complications from sickle cell anemia start as early as 5 to 6 months old. Some early symptoms include jaundice, where the skin and/or whites of the eyes take on a yellowish tint, extreme tiredness or fussiness, and painful swelling of the hands and feet. Along with these, there are serious symptoms that may require emergency medical care, such as severe pain, fatigue, irregular heartbeat, chest pain, shortness of breath, and priapism (painful erection lasting 4 hours or more). There is some variability in symptoms, especially since people have access to different medical care, as well as differing environmental factors. For example, many people’s outcomes in lifespan range from an abrupt death in childhood to remaining relatively asymptomatic until their eighties. 

Although many of this disorder’s symptoms are extreme and may seem intimidating, many of them are preventable through public education, diagnosis, and early discovery. Many families are unaware that sickle cell disease is genetic, meaning a healthy practice before conception is to simply get tested to see whether the sickle cell trait exists in each individual. It takes two sickle cell traits in each partner to yield a 25% chance of the offspring having sickle cell disease, since it is a recessive disorder. This can be done through blood and genetic tests, as well as prenatal screening. Being educated, whether that’s from school, flyers, or local hospitals, is important, and so is catching the disorder early through a diagnosis. In addition, catching the disease early can prevent irreversible damage, such as severe organ damage or life-threatening infections (primarily spleen damage). Together, education, diagnoses, and early identification can work together to save lives. 

A doctor who specializes in blood diseases is called a hematologist. Despite the effectiveness of detecting sickle cell anemia at an early stage, there are treatments for everyone. If your child is diagnosed with sickle cell anemia after verifying by testing, set up an appointment with a hematologist as soon as possible. The U.S. Food and Drug Administration (FDA) has established and approved four medicines to treat sickle cell disease, all of which treat different aspects of the disease. The four aspects include sickling prevention, blood vessel blockages, healthy blood cell production, and blood vessel blockages. It is important to consult with a healthcare provider before taking medicine for sickle cell anemia, because the outcomes differ between infants, children, adults, and pregnant women. Other treatments include blood transfusions and blood and bone marrow transplants. Transplants are riskier in adults than in children, and can come with further complications in some cases such as graft-versus-host disease, where the transplanted cells attack the recipient's organs, increased risk of some cancers, infertility, and seizures. However, the success rate ranges from 92% to 95%, while success means the patient no longer produces sickled red blood cells! The last common and newly discovered treatment is gene therapy. Since this disease is genetic, gene therapy aims to change existing DNA or add new DNA, using an advanced technology called CRISPR. As of right now, FDA-approved gene therapies are the most successful cure, with a big reason for this being because donors are not needed, as the technology alters the patients’ own stem cells.

While there are many options for treatment, a bulk of the population, especially in Sub-Saharan Africa, face obstacles to get treatment, or are simply not able to. More than 90% of people who have sickle cell disease are non-Hispanic Black or African American, and an estimated 3%-9% are Hispanic or Latino (National Heart, Lung, and Blood Institute). About one third of the world’s burden of sickle cell disease is found in Nigeria, and 1 in 4 Nigerians have the trait of the disease. Oddly enough, it has been found that carriers of the sickle cell trait are naturally immune to malaria (in most cases), as Nigeria also has the most cases of malaria in the whole world. This is something scientists have been analyzing, and it is believed by many that the abundance of malaria is the reason why the sickle cell gene is still around to this day. Since only carriers have a natural defense against severe malaria, the gene has stayed around due to the fascinating evolutionary advantage it has!

There are so many actions we can take to prevent emergency sickle cell anemia cases. It is a leading cause of mortality for those under five years old globally, and thousands of children, primarily in Sub-Saharan Africa, die undiagnosed each year. Millions of patients undergo sudden and intense pain that many could not imagine, and global life expectancy can lower as much as 20 years. If everyone were completely aware of this genetic disorder and their own genetic status, scientists and real-world health data show that new cases of sickle cell disease could drop from 40% to over 60%! Although awareness cannot alter biology in itself, it dictates our well-being, environment, and health choices, which could be life-saving. One-time cures are finally within reach, so be one to spread awareness of this inherited disease – that in itself is its own medicine!

Works Cited

“Sickle Cell Disease - What Is Sickle Cell Disease?” National Heart, Lung, and Blood Institute, U.S. Department of Health and Human Services, 10 Dec. 2025, www.nhlbi.nih.gov/health/sickle-cell-disease.

Rees, D. C., et al. “Determinants of Severity in Sickle Cell Disease.” Blood Reviews, vol. 56, Nov. 2022, article 100983. ScienceDirect, www.sciencedirect.com/science/article/pii/S0268960X22000571.

Ogbonna, C. N., et al. “An Overview of Sickle Cell Disease from the Socio-Demographic Triangle - a Nigerian Single-Institution Retrospective Study.” Pan African Medical Journal, vol. 41, article 161, 23 Feb. 2022. PubMed Central, pmc.ncbi.nlm.nih.gov/articles/PMC9120745.