By Ike Okwerekwu
Whether it is a lack of awareness, financial constraint, or limited healthcare access, many Africans with sickle cell disease have never been diagnosed. As a result, they may not be aware of their condition. For example, I was born in Nigeria, and doctors incorrectly told my parents that I did not have sickle cell disease. As a result, we did not learn about my condition until we moved to the United States. Had we not made a move, I may not have known about my condition until my adolescent years and possibly faced superstitious beliefs about the disease. For example, in some African countries and the Caribbean islands, there are several stories about the pain during a sickle cell crisis associated with a spiritual curse. Some sufferers are even cast out from their village because villagers associate their pain with the devil’s work.
Many patients with sickle cell disease face several problems with healthcare professionals in the community. The most significant is the lack of education and awareness about sickle cell disease; unfortunately, medical schools do not cover the condition sufficiently. Therefore, more discussions about sickle cell disease are essential. This blog article aims to increase awareness about sickle cell disease symptoms, diagnosis, and treatment.
Tell-tale signs of sickle cell disease and how I was diagnosed
In most cases, many people with sickle cell disease look relatively healthy, so the disease cannot be diagnosed based on physical appearance. However, there are several signs and symptoms to look for to evaluate whether a person has sickle cell disease or not. A notable sign is jaundice, caused by the buildup of bilirubin and commonly recognized as a yellowish hue of the eyes in people with sickle cell disease. Another symptom of sickle cell is fatigue.
Due to the sickle shape, the red blood cells do not deliver oxygen effectively around the body, causing a decrease in energy throughout the day. As a result, individuals with sickle cell often suffer from weight loss. During childhood, they may fail to reach the expected weight for age. In older children, they may appear unusually underweight, have delayed growth and puberty, and often appear younger than their agemates.
Vaso-occlusive crisis, or pain episodes, is a hallmark symptom of sickle cell disease and a warning sign for family members or healthcare professionals to test for sickle cell disease. Notable symptoms during a sickle cell crisis include shortness of breath and difficulty moving painful areas of the body. Most people can self-manage pain episodes; however, some pain crises can be intense and may appear seizure-like, requiring strong painkillers to relieve pain.
If you know someone with symptoms suggestive of sickle cell disease, the best practice is to refer the individual to a licensed healthcare provider for accurate diagnostic evaluation. Diagnosis is made with a blood test to check the form of hemoglobin that underlies sickle cell disease. Click here for sickle cell screening during pregnancy, in newborns, and carriers.
Treatment options
The pain of sickle crisis can be managed with hydroxyurea (hydroxycarbamide) and, in severe cases, crizanlizumab (ADAKVEO®). Crizanlizumab can be given alone or in combination with hydroxyurea. Click here and here for information on treatment. Other treatment options to help manage pain include paracetamol or ibuprofen, antibiotics to reduce infection risk, and dietary supplements such as folic acid to reduce sickle cell-related anemia. Stem cell or bone transplants are the only cure for sickle cell disease but are associated with risks.
Apart from hydroxyurea and crizanlizumab, there are a few effective drug options to treat sickle cell disease. However, recently, voxelotor (OXBRYTA) was approved in December of 2021 by the United States Food Drug Administration for treating sickle cell disease. Click here for the complete prescribing information, here for information for healthcare professionals, and here for patient information. Voxelotor reduces sickling by increasing hemoglobin levels, reducing the breakdown of red blood cells, and increasing oxygen delivery. Voxelotor is available in two dosage forms: Oxbryta 300mg Oral Suspension and Oxybryta 500mg tablets. Common side effects of voxelotor include nausea, hives, fever, and diarrhea. However, these side effects generally occur infrequently. The biggest downside to voxelotor is the cost. Access to the medication can be a significant barrier; however, Global Blood Therapeutics, voxelotor’s manufacturer, offers financial assistance and reimbursement for people with sickle cell disease who are prescribed the drug.
As a sickle cell patient, I do not take voxelotor because hydroxyurea has been highly effective in treating my sickle cell disease. However, for many patients, hydroxyurea may fail to improve their sickle cell disease symptoms. Unlike hydroxyurea, initially developed as a cancer treatment, voxelotor is explicitly developed for sickle cell disease.
Click here to learn more about sickle cell disease, including the myths and facts about the disease.
The Missing Link to Improved Health Outcomes (MiLHO) Initiative provides online CME courses that recognize and consider Africa’s unique medical practice environment by developing relevant evidence-based content. The initiative aims to expand opportunities for CME to assist healthcare practitioners in staying current with evidence supporting patient care in their local setting. Courses are certified by the CPD Certification Service. Visit the MiLHO Initiative to learn more.
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