Sickle cell disease (SCD) is a hereditary condition marked by anomalous hemoglobin. Our company is committed to pushing the boundaries of SCD diagnosis with state-of-the-art technologies and customized solutions. By developing innovative IVD reagents/kits and compact diagnostic devices, our aim is to address the complexity of SCD pathogenesis and diagnostic challenges, fundamentally transforming the detection and management of this genetic disorder.
Overview of Sickle Cell Disease
Sickle cell disease (SCD) is a rare genetic disorder resulting from mutations in the HBB gene. The gene mutations alter the structure of hemoglobin within red blood cells, causing them to take on the characteristic sickle shape. This abnormality leads to cells sticking together, impeding blood flow, and resulting in various complications including anemia, pain crises, organ damage, and susceptibility to infections. Research suggests that around 100,000 individuals in the United States are impacted by SCD.
Fig. 1 Schematic diagram of the pathophysiology of sickle cell disease. (Inusa B P D, et al., 2019)
Diagnostic Biomarkers for Sickle Cell Disease
Sickle cell disease (SCD) diagnosis relies heavily on the identification of specific biomarkers associated with the disorder. These biomarkers play a pivotal role in confirming the presence of SCD, determining the specific type of the disease, and monitoring disease progression. Here are some key diagnostic biomarkers used in the diagnosis of SCD:
Abnormal Hemoglobin
The presence of hemoglobin S (HbS), stemming from a genetic mutation in the HBB gene, serves as a distinctive biomarker for SCD. Hemoglobin electrophoresis is commonly used to separate and identify different hemoglobin variants, with HbS being characteristic of SCD.
Sickled Cells
The presence of sickled cells confirms the diagnosis of SCD. The sickling test is a rapid diagnostic method that involves inducing sickling of red blood cells by exposing them to low oxygen levels. If a significant percentage of the red blood cells in the sample are sickled, SCD is present.
Bilirubin
Bilirubin can be considered a diagnostic biomarker of SCD. Increased levels of indirect bilirubin are often observed in individuals with SCD due to hemolysis of sickled red blood cells. Tracking bilirubin levels offers insights into the extent of hemolysis and disease severity.
IVD Kits for Sickle Cell Disease
In vitro diagnostic (IVD) kits play a crucial role in accurately diagnosing SCD, enabling healthcare providers to identify affected individuals, initiate appropriate therapies, and monitor disease progression. The following table shows common IVD kits for SCD.
| Kits |
Uses |
Test Methods |
| Hemoglobin Electrophoresis Kits |
Identify characteristic abnormal hemoglobin variants of SCD, such as hemoglobin S (HbS). |
Electrophoresis |
| Sickling Test Kits |
Confirm the presence of sickle-shaped cells, a hallmark of SCD. |
Sickling test |
| Hemoglobin Solubility Test Kits |
Screen for the presence of abnormal hemoglobin. |
Hemoglobin solubility test |
| HBB Gene Detection Kits |
Identify HBB gene mutations. |
PCR |
Our Services
Specializing in tailored in vitro diagnostic (IVD) solutions for rare genetic disorders like sickle cell disease (SCD), our company is dedicated to creating custom gene testing kits that precisely detect abnormal HBB gene mutations. We also contribute to the development of metabolic biomarkers detection kits, enhancing the speed and convenience of SCD diagnosis. With supporting diagnostic equipment, these kits can achieve accurate and reliable detection, aiding in the timely diagnosis and intervention of SCD.
IVD Product Development Services
Our services are not limited to this. To expedite prompt diagnosis and personalized therapies for sickle cell disease (SCD), we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of SCD diagnostics, enabling personalized care strategies for affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Inusa B P D, Hsu L L, Kohli N, et al. Sickle cell disease—genetics, pathophysiology, clinical presentation and treatment[J]. International journal of neonatal screening, 2019, 5(2): 20.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
