DNA mutations modify a genetic code’s meaning, leading to many congenital and acquired malformations. These genetic aberrations are multifactorial, and their effects range from mild to fatal. This discussion post reviews sickle cell anemia, an autosomal recessive disorder that emanates from substitution mutations in the DNA.
In this condition, the anomaly is in chromosome 11, whereby glutamic acid replaces valine at position 6 in the beta chain of normal hemoglobin (HbA), resulting in the formation of HbS (Inusa et al., 2019). Sickle cell anemia is clinically present when a patient has a homozygous mutation inheritance (Inusa et al., 2019). Hemoglobin S is abnormal and precipitates in red blood cells under specific conditions, thereby interfering with circulation. Sickle cell hemoglobinopathy involves reversible sickling of red blood cells during deoxygenation, dehydration, or acidosis. Under suitable conditions, sickle hemoglobin undergoes polymerization, leading to polymer rods forming within erythrocytes (Inusa et al., 2019). Sickle-shaped cells are less flexible than biconcave red cells; therefore, they increasingly cause blockage in the microcirculation.
Additionally, sickle-shaped cells increase blood viscosity and decrease tissue perfusion (Inusa et al., 2019). Sickle cell anemia occurs when most red cells with HbS undergo hemolysis. According to Inusa et al. (2019), erythrocytes with HbS are more fragile and susceptible to destruction than RBCs with HbA. A pathognomonic feature of this disease is the relative protection of patients against malaria associated with Plasmodium falciparum (Inusa et al., 2019). Faulty RBCs leak nutrients essential for the parasite’s survival and are frequently destroyed along with the intracellular parasite, thus providing the patient with relative protection. Sickle cell anemia is a prevalent genetic disease; hence more innovative research on curative measures is needed to lessen its occurrence.
Reference
Inusa, B., Hsu, L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K., & Atoyebi, W. (2019). Sickle cell disease: Genetics, pathophysiology, clinical presentation and treatment. International Journal of Neonatal Screening, 5(2), 20. Web.