Medical Professionals

About Sickle Cell Disease

Sickle cell disease occurs when a person inherits a faulty beta-globin gene, also known as the HBB gene. In adults, this gene controls how red blood cells produce hemoglobin, a protein that helps red blood cells carry oxygen throughout the body. Without enough functional hemoglobin, the red blood cells become stiff and take on a sickle shape.

This causes the red blood cells to break apart easily, which leads to a variety of problems including severe pain (also known as vaso-occlusive events), infections, organ damage, and can lead to premature death. The symptoms can impact a person’s everyday life by limiting their ability to do regular activities and can result in frequent hospital visits.

While in the womb, humans produce fetal hemoglobin, which comes from a different gene than the adult form. Typically, the fetal hemoglobin geneswitches off shortly after birth. While most people switch to…

Abstract

Significance: Sickle cell disease (SCD) is the most common inherited diathesis affecting mostly underserved populations globally. SCD is characterized by chronic pain and fatigue, severe acute painful crises requiring hospitalization and opioids, strokes, multiorgan damage, and a shortened life span. Symptoms may appear shortly after birth, and, in less developed countries, most children with SCD die before attaining age 5. Hematopoietic stem cell transplant and gene therapy offer a curative therapeutic approach, but, due to many challenges, are limited in their availability and effectiveness for a majority of persons with SCD. A critical unmet need is to develop safe and effective novel targeted therapies. A wide array of drugs currently undergoing clinical investigation hold promise for an expanded pharmacological armamentarium against SCD. Recent Advances:Hydroxyurea, the most widely used intervention for SCD management, has improved the survival in the Western world and more recently, voxelotor (R-state-stabilizer), l-glutamine, and crizanlizumab (anti-P-selectin…

Chronic pain is the most common complication affecting adults with sickle cell disease (SCD).1 Pain profoundly affects people’s quality of life, functional ability, and health care utilization. Clinicians are often unsuccessful at addressing chronic pain in SCD, especially among the large number of patients for whom nonopioid analgesics aren’t sufficient and those who have developed opioid tolerance. Why aren’t we doing better?

We believe the medical community is looking at sickle cell pain through the wrong lens — treating it as a hematologic problem, while overlooking the neurologic, psychological, and social aspects of chronic pain. Given the current understanding of the neuropsychology of pain, the health care system has the ability to manage sickle cell pain more effectively. Doing so will require accepting a broader understanding of the experience of pain and devoting adequate resources to addressing its multiple dimensions.

The biopsychosocial model helps capture people’s experience of chronic pain…

Abstract

Sickle cell disease (SCD), a distinctive and often overlooked illness in the 21st century, is a congenital blood disorder characterized by considerable phenotypic diversity. It comprises a group of disorders, with sickle cell anemia (SCA) being the most prevalent and serious genotype. Although there have been some systematic reviews of global data, worldwide statistics regarding SCD prevalence, morbidity, and mortality remain scarce. In developed countries with a lower number of sickle cell patients, cutting-edge technologies have led to the development of new treatments. However, in developing settings where sickle cell disease (SCD) is more prevalent, medical management, rather than a cure, still relies on the use of hydroxyurea, blood transfusions, and analgesics. This is a disease that affects red blood cells, consequently affecting most organs in diverse manners. We discuss its etiology and the advent of new technologies, but the aim of this study is to understand the various…