Technology plays a vital role in the organization of sickle cell organizations. One example is the ability to detect and monitor a disease using optical microscopy. Another is in the use of gene editing technology to treat conditions that are caused by sickle cells. The third example is the development of a model of microvascular occlusion in vitro.
Current Methods to Detect and Monitor SCD
It is known that a mutation of the beta-globin gene causes sickle cell disease. This disease has a high mortality rate. Hence, early detection is essential for the effective management of the disease. As a result, various techniques have been developed to diagnose the condition.
Currently, two main categories of techniques are used in diagnosing SCD. The first category is based on biochemical and molecular tests. These tests involve complete blood count, Hb electrophoresis and hemoglobin electrophoresis. However, more is needed to provide a comprehensive picture of the patient’s condition. It is critical to join sickle cell organizations near me in order to stay up to date on any developments in disease treatments.
The second category is based on image processing methods. These techniques are time-consuming and require special equipment. Although they help detect and monitor patients, they cannot distinguish between the different types of SCD.
The most widely used method for diagnosing and monitoring SCD is Hb electrophoresis. However, the concentration of HbF is too high to be applied to newborn screening. Therefore, it is necessary to use a combination of biochemical and molecular tests.
Another method for diagnosis is to employ whole-genome sequencing. This technique can identify genomic modifications related to SCD.
Vaso-occlusive crises (VOC)
Vaso-occlusive crises (VOC) are painful episodes common in patients with sickle cell disease. They cause inflammation and damage to the body. VOC is thought to be caused by the interaction of sickle cells with activated neutrophils.
VOC is a debilitating form of pain that can lead to ischemic tissue injury. In most cases, a sickle cell disease patient suffers from a single episode, but others may have several. The condition is considered a leading cause of hospitalization in SCD. However, it is difficult to predict the frequency of these painful events, limiting the ability to identify causes.
A study from Brazil aimed to characterize the prevalence of vaso-occlusive crisis in patients with SCD. Two hundred sixty patients were included in the study. Using the Medicaid Analytic eXtract, they analyzed the records of patients with SCD with more than two diagnoses.
Patients had a mean of 4.0 crises per year. The frequency of VOC was associated with higher levels of neutrophils, lactate dehydrogenase, and hemoglobin concentration. Also, a significant decrease in platelet count was observed.
Endothelialized Microfluidic Platform
To study sickle cell disease (SCD), an endothelialized microfluidic platform has been developed. The platform is composed of a main channel and bifurcating channels. This platform has been used to recreate FeCl3-induced thrombosis in vitro.
In SCD, red blood cells polymerize hemoglobin, causing the channel to obstruct. It is believed that this process is due to vaso-occlusion. As a result, many morbidities of this disease occur.
The transmural flow of intravascular fluid is a critical function of the endothelium. When this flow is disturbed, it activates inflammatory pathways. Thus, this process represents an essential source of intraplaque hemorrhage. However, understanding this process’s physiologic and pathologic mechanisms is complex.
Angiogenesis has been implicated in these processes. Therefore, it is essential to understand the physiological responses of these organotypic microvascular networks.
Various groups have utilized vascularized microfluidic platforms to explore the processes associated with blood vessel formation, maturation, and stabilization. These studies have contributed to our understanding of the role of angiogenesis in atherosclerotic plaque development. Other groups have used the platform to investigate processes related to leukocyte-endothelial interactions.
Electrical Impedance Sensor
A microfluidics-based electrical impedance sensor for measuring cell sickling events in sickle cell organizations was developed. This technology has been successfully used for measuring dynamic cell sickling-unsickling processes.
Sickle cell research has advanced rapidly in recent years, thanks partly to the proliferation of microfluidics technologies. These devices can help us understand the effects of therapeutic interventions. However, the need for standardization in measurement and validation methods has been an obstacle to this progress. Establishing consensus about design guidelines, validation methods, and standardization of molecular mediators is essential.
The sickle cell disease microenvironment consists of complex interactions among its constituent cells and vascular components. One such interaction is endothelial adhesion. Several studies have shown that endothelial adhesion in SCD is abnormal. Despite the importance of endothelial adhesion, little is known about the complex interaction between endothelial cells and other cells.
Another area of improvement in sickle cell research is the identification of novel mediators and pathways that contribute to sickling. These include cellular morphology and molecular mechanisms. Until recently, the direct detection of these events has relied on cell deformability measurements.
Gene Editing Treatment for SCD
In a clinical trial for sickle cell disease, researchers at UCSF Benioff Children’s Hospital Oakland use CRISPR-Cas9 gene editing to treat patients. The therapy involves killing existing blood stem cells and replacing them with lab-altered ones.
This treatment aims to restore the ability to make fetal hemoglobin, a particular type of hemoglobin that does not sickle. Patients with sickle cell disease have low levels of fetal hemoglobin, causing complications such as anemia and fatigue.
This new treatment also targets the gene that inhibits the production of fetal hemoglobin, BCL11A. Inhibition of this gene allows fetal hemoglobin to be made in red blood cells.
Researchers are currently evaluating the results of this treatment for several different patients. Results are expected to be available shortly.
Currently, the procedure is being reviewed by the US Food and Drug Administration and the European Medicines Agency. Despite these delays, the trial is moving forward. It is anticipated that a final approval decision will be made within the next 18-24 months.