Sickle Cell Disease

Introduction

Sickle cell disease is a genetic type of anemia in which red blood cells are in a sickle cell shape, rigid and sticky causing blockage in small blood vessels that slow down blood and oxygen supply. This results in early death of the red blood cells and inadequate oxygen supply through the body due to insufficient cells.

Epidemiology

In case when two parents have either sickle cell trait or sickle cell disease a child can inherit sickle cell disease. Approximately 100,000 Americans are living with sickle cell disease and eight to 10 percent of African Americans. Among the Black or African-American citizens, one out of 365 are born with sickle cell disease while among Hispanic Americans, one out of 16,300 are born with SCD.

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Risk factors for the disease are: family history where children are at risk of developing sickle cell disease if both parents carry sickle cell genes; race is common in black populations and prevalence of malaria in certain areas (Pashankar, Carbonella, Bazzy-Asaad, & Friedman, 2014). Certain ethnic groups are at a higher risk of developing the disease such as African Americans from the African desert, Hispanic-Americans in Central and South America and, people from the Asian, Indian, Middle Eastern and Mediterranean descent.

Pathophysiology

Normally, individuals without the disease have flexible and round red blood cells that are in free motion through all blood vessels. In infants, it presents with mild jaundice, anemia and hand-and-foot syndrome. In adolescents and adults, it manifests itself in episodes of pain; patients have periodic pain episodes, crises for hours or weeks. The chronic pain is mainly felt in bone joints, chest and abdomen (Ely, Dampie, Brodecki, O’Neal, & Coleman, 2015). Also, most patients suffer from anemia due to inadequate red blood cells. Patients also have other health problems such as painful swelling in hands and legs, eye problems, delayed growth in infants and frequent body infections.

Moreover, progression of the disease may lead to long-term health problems such as: gallstones, degeneration of bones, especially hips, blindness, chronic renal disease, leg ulcers and susceptibility to infections such as pneumonia and meningitis.

Trends in Treatment

Outcomes for sickle cell patients have improved by: development of a new medicine, Endari which decreases inflammation and stickiness that cause sickling of red blood cells; likewise, development of the transplant technique where suitable sibling donors without sickle cell disease donate blood-forming stem cells in children with SCD. In return, this has been successively with patients being free of symptoms of the disease and no longer needed immune-suppressive drugs.

In Sub-Saharan Africa, the hydroxyurea drug has been found to be effective for children with SCD by reducing episodes of pain, malaria, anemia and other infections. Opioid medications have also been used to help in pain control for these patients (Walters, 2015). Moreover, gene therapy for sickle cell disease has improved patient outcomes with patients being infused with their own stem cells which have been flipped to produce healthy hemoglobin.

Culture Sensitive Care

A cognitive-behavioral pain management intervention is provided to African-American children and adolescents with SCD because they suffer from pain complications. This has helped them manage the chronic pain. Provision of free premarital screening services in hospitals to Omanis has assessed the awareness and beliefs of SCD by people.

In conclusion, sickle cell disease is inherited when both parents have sickle cells and the patients have to live with the disease. However, recent researches have come up with medications to reduce complications of the disease and transplant procedures have been used to treat the disease.

 

References

Ely, B., Dampier, C., Brodecki, D., O’Neal, P., & Coleman, C. (2015). Characteristics of pain episodes in infants and young children with sickle cell disease. The Journal of Pain, 6(3), 1. doi:10.1016/j.jpain.2005.01.004

Pashankar, F. D., Carbonella, J., Bazzy-Asaad, A., & Friedman, A. (2014). Prevalence and risk factors of elevated pulmonary artery pressures in children with sickle cell disease. Pediatrics, 121(4), 777-782. doi:10.1542/peds.2007-0730

Walters, M. C. (2015). Stem cell therapy for sickle cell disease: Transplantation and gene therapy. Hematology, 2015(1), 66-73. doi:10.1182/asheducation-2015.1.66