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My Sickle Cell Disease Was Missed: Why?

By Ike Okwerekwu

I was born in a small hospital in Enugu, Nigeria. My dad was aware of his sickle cell carrier trait, but my mom did not know she was also a carrier at the time. When the medical doctors evaluated my health and spoke with my parents, sickle cell disease was not mentioned. It was not until my parents decided to immigrate to America a year later that we discovered that I had sickle cell disease.

If my parents had chosen to stay in Nigeria, I often wonder how long it would have taken to learn about my medical condition. Although many people in Africa are aware of sickle cell disease, there is still a knowledge gap in diagnosing and treating other people with sickle cell. In African villages, many people view a sickle cell pain episode as an omen or sign of an evil spiritual presence. Not knowing I have sickle cell anemia and a lack of medical education would have strongly hindered my ability to care for myself. As a pharmacist, my medical background has dramatically enhanced my knowledge of treating and managing the disease, preventing me from being hospitalized for the last five years.

When I was diagnosed, my parents were shocked and devastated. However, treatment was started, and my condition was managed. Unfortunately, a lack of diagnosis, delayed or misdiagnosis, can result in no or inadequate treatment, which is the case for many people in Africa, and a tragic situation that should never occur. 

Lack of diagnosis or misdiagnosis, however, can occur due to a significant overlap of symptoms, and therefore, it can be challenging to differentiate sickle cell from other diseases. For example, the hallmark symptom of sickle cell disease is a vaso-occlusive crisis, but the pain episode can be confused with a seizure or a stroke. Sickle cell anemia may also be mistaken for other medical conditions with pain and fatigue, such as thalassemia, leukemia, and hemolytic anemia. 

Sickle cell disease results from mutation of the normal type of hemoglobin A (HbA) to variants. Sickle cell screening and diagnosis can be made with blood and genetic testing. One of the diagnostic blood tests for sickle cell is hemoglobin electrophoresis which measures different types of hemoglobin in the blood, including abnormal hemoglobin. A genetic test can help determine the type of sickle cell disease or can help confirm a diagnosis if blood test results are unclear. A diagnosis of sickle cell anemia is confirmed when electrophoresis shows the presence of homozygous hemoglobin with the sickle cell gene (HbSS), indicative of individuals with two sickle cell genes from each parent. The exam may also show sickle cell trait HbS (hemoglobin with sickle cell gene only from one parent), and other variants including HbSC, HbSE (hemoglobin with sickle cell gene (S) from one parent and hemoglobin gene C or E from the other parent), and HbS-beta+ (hemoglobin with sickle gene from one parent and beta thalassemia from the other parent). Sickle cell variants and sickle cell traits should be distinguished from sickle cell disease (HbSS). 

The variations of sickle cell are milder and have fewer sickle cell crisis-associated pain episodes. In HbSC disease, the HbC mutation has lysine replaced by glutamic acid, and the normal hemoglobin HbA is absent. In HbS-beta + thalassemia, HbA concentration usually presents between 10% and 30%. The sickle cell trait is the heterozygous carrier state of HbS and has approximately a hemoglobin composition of 40% HbS and 60% HbA. Individuals with sickle cell trait are generally asymptomatic.

Parents and newborn screening for sickle cell disease or sickle cell trait are essential. A delayed diagnosis or misdiagnosis can cause needless suffering, and long-term may damage vital organs, including the liver, heart, kidneys, gallbladder, eyes, bones, and joints. 

Early awareness of the patient’s disease state allows healthcare professionals to take the necessary actions, including preventing infections by providing the child with penicillin, initiating appropriate therapy, and educating parents on managing their child’s condition.

Click here and here to learn more about sickle cell disease and its diagnosis.

To learn more about sickle cell disease and its diagnosis, click here and here.

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