THE ACQUISITION OF NIPD GENETICS IS COMPLETED
The earlier announced acquisition of NIPD Genetics, a leading innovative biotechnology company based in Cyprus, active in the field of designing, developing, producing, and providing …Read More
Sickle cell disease (SCD) is one of the most common inherited blood disorders worldwide. The global prevalence of SCD has been reported to be 112 per 100,000 live births, with the highest birth prevalence being in Africa – 1,125 per 100,000 births compared with 43 per 100,000 births in Europe1. As an autosomal recessive disorder, a child with SCD is born to two parents who are asymptomatic carriers of a sickle cell mutation (genetic change). The hallmark trait of the disease is the crescent moon shape of the red blood cells (RBCs), also known as ‘sickle’, which gives the disease its name.
The rigid shape of the RBCs is due to abnormal hemoglobin. Hemoglobin is a protein carried by the RBCs whose function is to transport oxygen throughout the body. Hemoglobin also carries iron – whose interaction with oxygen is the cause of the red color of the RBCs. Hemoglobin is made up of 2 α-protein and 2 β-protein subunits that is expressed by the HBB gene. When mutations occur in the HBB gene, hemoglobin’s function is altered. The different forms and varying severity of SCD depend on the mutation and whether one or both of β-globin chains are affected.
The complications of SCD are caused by the abnormal shape of RBCs. Normally, RBCs are round and flexible, able to move easily through the blood vessels and deliver oxygen and nutrients to the body. The sickled RBCs are misshapen and sticky. Their shape causes them to get stuck in small blood vessels, restricting the flow of other cells and slowing or blocking the transport of oxygen to the body – causing anemia. This causes painful episodes, termed ‘crises’, which deprive tissues and organs of oxygen and nutrients and can overtime lead to organ damage2,3. The intensity and the length of these crises varies. Some patients suffer from chronic pain due to bone and joint damage caused by the disease. The organs that are most affected are the lungs, kidneys, spleen and brain. If RBCs get stuck to the tiny blood vessels that supply the eyes, they could damage the retina leading to vision problems2,3. The blockage of blood vessels by sickled RBCs can also cause stroke, pulmonary hypotension, heart failure and even death2,3,4. Individuals with RBC are also in danger of frequent and severe infections, as the organs that help fight infections – like the spleen – are damaged and may need to be removed. Sickled cells break apart easily and die faster than healthy RBCs. Instead of the normal lifespan of 120 days, sickled RBCs only live 10-20 days3. Shortage of RBCs can cause acute chest syndrome due to low oxygen levels, and delay growth during puberty.
The only cure for SCD is a bone marrow transplant, which is a very risky procedure that is only available to people under 16 years of age due to the many complications, including death. Current treatment focuses at avoiding crises, reducing pain, relieving symptoms and preventing complications caused by the disease. Patients with SCD receive frequent blood transfusions where only the RBCs are donated to increase the number of healthy RBCs in their circulation. Iron chelation therapy may be needed to reduce the iron buildup from the blood transfusions as it is hurtful for the heart, liver and other organs. Antibiotics like penicillin can help fight infections and are especially important when the spleen has been removed. Hydroxyurea, a medication also used in cervical cancer and leukemia, can stimulate fetal hemoglobin production which prevents formation of sickle cells. It may reduce the frequency of painful crises or the need for frequent blood transfusions, but it could increase infection risk3. Experimental treatments like gene therapy, nitric oxide gas to help keep the blood vessels open and drugs to boost fetal hemoglobin are being examined. People with SCD can benefit from having a healthy diet, taking folic acid supplements which help the bone marrow make new RBCs, drinking plenty of water, avoiding temperature extremes and exercising regularly – without overdoing it. Carriers of sickle cell – sickle cell trait – rarely have any complications of SCD, but they may be more likely to experience heat stroke and muscle breakdown when doing intensive exercise.
Approximately 5% of the world’s population is a carrier of hemoglobinopathies, which include SCD and thalassemia5. Due to the high frequency and severity of SCD, many countries like the Unites States of America, United Kingdom, France, the Netherlands, Spain and Malta have national newborn screening programs to detect the disease early through a simple blood test6. SCD is also included in many carrier screening panels so that couples or individuals can get informed on their genetic status and reproductive options. Non-invasive prenatal testing (NIPT) for SCD is also available, with subsequent invasive procedures like chorionic villus sampling (CVS) or amniocentesis recommended to confirm disease presence in case of a positive NIPT result. Early diagnosis and treatment of SCD is important for the prevention of SCD-related complications.
Today, the vast majority of SCD patients live well into adulthood in developed countries. In resource-poor countries, over 90% of children with SCD do not survive past childhood.7 Globally, a 30% growth in the number of people with SCD is expected by 20507. Education, support and awareness on SCD can be effective tools in reducing mortality and promoting the finding of a cure.
NIPD Genetics has a comprehensive portfolio of products which includes testing of SCD in VERAgene NIPT, Adventia carrier screening and Oreana newborn screening. Results, possible next steps and clinical management should always be fully discussed with your healthcare provider.
The content is intended only for informational purposes and should not be perceived as medical advice.
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NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a broad spectrum of healthcare services to its customers through its expansive portfolio of molecular and clinical laboratory tests in all disciplines.
At NIPD Genetics we are committed to protecting and respecting our customer’s privacy and personal information. Personal information or personal data means any information that identifies, relates to, describes, is capable of being associated with, or could be reasonably linked, directly or indirectly, with a particular individual, such as name, identification number, location data, an online identifier or to one or more factors specific to the physical, physiological, genetic, mental, economic, cultural or social identity of that individual.
NIPD Genetics collects and processes your personal information according to the General Data Protection Regulation (EU) 2016/679 and the Cypriot law providing for the protection of natural persons with regards to the processing of personal data and for the free movement of such data (L. 125(I)/2018). The following principles lie at the heart of our approach to handling personal data:
NIPD Genetics has appointed a Data Protection Officer (DPO) who is responsible for overseeing and ensuring that personal information is collected and processed in line with these principles. The contact details of the Data Protection Officer (DPO) can be found below:
Email address: email@example.com
Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus
Telephone number: + 357 22266888
We collect and process several types of personal information from and about users of our websites and of our products and services, including:
If you are under 18 years of age, do not register on our website or provide any information about yourself to us. We do not provide our products or services directly to children or proactively collect their personal information. Despite this prohibition, it is possible that we may sometimes be given information about children while handling samples from our customers in our clinical labs, or through use of our products and services by our customers and partners. If we become aware that we have inadvertently collected personal information from children under the age of 18, without parental consent, we will take the necessary steps to delete it as soon as possible in compliance with applicable laws.
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To provide our products and services, NIPD Genetics may collect, receive and process biological samples to isolate and sequence DNA. NIPD Genetics may then store resulting genetic information and use genetic information to provide our products and services. In some cases, NIPD Genetics may provide interpretations of genetic information on behalf of its customers, including healthcare providers. This is only done pursuant to a written contract or a Sample Information Form with a patient’s informed consent and is subject to applicable legal and ethical safeguards.
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Effective date: 18/06/2021Ok got it!