Sickle Cell Matters

September, Sickle Cell Awareness Month

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.

References:

  1. Wastnedge E. et al. (2018), ‘The global burden of sickle cell disease in children under 5 years of age: a systematic review and meta-analysis’. Journal of global health; 8(2): 021103
  2. American Society of Hematology (2019), https://hematology.org/
  3. Mayo Clinic (1998-2019), https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
  4. Genetics Home Reference (2019), https://ghr.nlm.nih.gov/condition/sickle-cell-disease
  5. World Health Organization, Regional Office for Africa (2015), https://www.afro.who.int/health-topics/sickle-cell-disease
  6. Daniel Y. et al. (2019), ‘Newborn Screening for Sickle Cell Disease in Europe’. International Journal of Neonatal Screening, 5,15
  7. Sickle Cell Disease Coalition, Understanding the Impact of Sickle Cell Disease Infographic (2017), http://www.scdcoalition.org/sickle-cell-disease.html


Share
View All Posts

NIPD Genetics - Privacy Policy

General Statement

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: dpo@nipd.com

Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus

Telephone number: + 357 22266888

By accessing or using our products or services, or by transmitting information to us by email or other electronic means, you accept our policies, procedures and practices described in this Privacy Policy. If you do not agree with our policies, procedures and practices as described, you can choose not to access or use our products or services or not to transmit personal information to us.

This Privacy Policy applies to NIPD Genetics facilities, its websites www.nipd.com, www.nipdlabs.com, www.nipdlabs.com.cy and their subdomains, that link to this privacy pol icy.

PERSONAL INFORMATION COLLECTION AND PROCESSING

We collect and process several types of personal information from and about users of our websites and of our products and services, including:

Information about children

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.

LEGAL BASIS FOR PROCESSING OF YOUR PERSONAL INFORMATION

Your personal information is collected by NIPD Genetics for the following purposes:

  1. To provide you with our products and services, respond to your inquiries or fulfill your requests and otherwise manage your relationship with us. The legal basis for processing is to meet the requirements of a contract, to comply with our legal obligations and/or because we have a legitimate interest in responding to requests for information about our products and services.
  2. To communicate with you about content and product offerings, newsletters and event invitations which are relevant to your interests and in line with your preferences. The legal basis for processing is the individual’s explicit consent prior to sending the information and managing individuals preferences.
  3. To process and respond to complaints. The legal basis for processing is to meet a legal obligation.
  4. To monitor and record information relating to the use of our products and services, including our website. The legal basis for processing is our legitimate interest in order to improve our products and services and our website for individuals.

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.

This sensitive information described above is collected by NIPD Genetics for the following purposes:

  1. To provide support and maintenance services to customers who use our products and services – The legal basis for processing is to meet the requirements of a contract.
  2. To provide genotyping and sequencing services and analysis for our customers, including healthcare providers. The legal basis of this processing is to meet the requirements of a contract or as allowed in the Sample Information Form with a patient’s informed consent.
  3. To conduct genotyping and sequencing services and analysis for quality control, process and product development and improvements, and optimization in our labs to reflect quality improvements and advances in our technology. The legal basis for processing is the patient’s informed consent given through the Sample Information Form.

Transfer of Data

Your information, including personal data, may be transferred to - and maintained on - computers located outside your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.

If you are located outside Cyprus and choose to provide information to us, please note that we transfer the data, including personal data, to Cyprus and process it there.

Your consent to this Privacy Policy followed by your submission of such information represents your agreement to that transfer.

NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and in accordance with this Privacy Policy and no transfer of your personal information will take place to an organization or a country unless there are adequate controls in place including the security of your data and other personal information.

Disclosure of Data

NIPD Genetics complies with the General Data Protection Regulation and will not sell or trade your personal information.

NIPD Genetics may disclose your personal information in the good faith that such action is necessary:

COOKIES AND OTHER TRACKING TECHNOLOGIES

Cookies are files with small amount of data which may include an anonymous unique identifiers. Cookies are sent to your browser when you visit a website and stored on your device. Tracking technologies used on the website are beacons, tags and scripts, to collect and track information and to improve and analyze our websites.

We use cookies and similar tracking technologies to track the activity on our websites and collect certain information. This includes information about the computer or device you are using, such as Internet protocol (IP) address, information about the browser type or version, the pages of our website that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However, if you do not accept cookies, you may not be able to use some portions of our websites.

Examples of Cookies we may use:

Session Cookies. We use Session Cookies to operate our websites.

Preference Cookies. We use Preference Cookies to remember your preferences and various settings.

Security Cookies. We use Security Cookies for security purposes.

Visitor behavior cookies. To understand how visitors use and navigate the websites

Keyword cookies. To understand how visitors discover the websites.

ANALYTICS

We may use third-party Service Providers to monitor and analyze the use of our websites.

Google Analytics

Google Analytics is a web analytics service offered by Google that tracks and reports website traffic. Google uses the data collected to track and monitor the use of our service. This data is shared with other Google services. Google may use the collected data to contextualize and personalize the ads of its own advertising network.

You can opt-out of having made your activity on the Service available to Google Analytics by installing the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript (ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.

For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page

SECURITY OF DATA

We are committed to protecting the security of the information we collect, and we take reasonable physical, technical, and administrative safeguards such as data anonymization and encryption to help protect personal information from unauthorized or inappropriate access or use. It is your responsibility to protect the confidentiality of your passwords, and any other access features associated with your access or use of the website or our products and services, as well as to adhere to any applicable Terms of Use or other contract between us and you or your organization.

PERSONAL DATA RETENTION

We may retain collected information even after you remove it from the website, our Services, or our Products, to comply with applicable law, to resolve disputes, to enforce any rights in connection with the website, our Services, or our Products, and to use as provided in this Privacy Policy, the Terms of Use, or an applicable contract between us and you or your organization. How long we retain specific personal information varies depending on the purpose for its use and we may delete or retain your personal information in accordance with applicable law.

SERVICE PROVIDERS

We may employ third party companies and individuals to facilitate, maintain or operate our websites (“Service Providers”), to provide the websites on our behalf, to perform service-related services or to assist us in analyzing how our websites are used.

These third parties have access to your Personal Data only to perform these tasks on our behalf and are obligated not to disclose or use it for any other purpose.

LINKS TO OTHER SITES

Our websites may contain links to other sites that are not operated by us. If you click on a third-party link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy of every site you visit.

We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.

CHANGES TO THIS PRIVACY POLICY

This Privacy Policy may be updated from time to time. We will notify you of any changes by posting the new Privacy Policy on this page.

We will let you know via email and/or a prominent notice on our website, prior to the change becoming effective and update the “effective date” at the bottom of this Privacy Policy.

You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy are effective when they are posted on this page.

YOUR LEGAL RIGHTS

NIPD Genetics ensures that it can respond immediately to requests that you make for the exercise of your legal rights in accordance with data protection laws. These rights are as follows:

You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal Data Protection.

We encourage you to contact us, should you wish to practice any of your legal rights or you have any questions about this Privacy Policy, by sending an email to NIPD Genetics’ Data Protection Officer at dpo@nipd.com.

Effective date: 18/06/2021

Ok got it!