Derived from the Greek words for sea (θάλασσα) and blood (αίμα), thalassemias are a group of inherited, genetic blood disorders. Thalassemias occur when the production of hemoglobin, a protein that carries oxygen within the red blood cells (RBCs) is disrupted. A life-threatening disease, thalassemia is an autosomal recessive condition with over 100,000 affected babies being born every year1.

Hemoglobin consists of two parts, called alpha and beta proteins. When the production of one of these proteins is affected, it results in either alpha (α) or beta (β) thalassemia. Severity depends on the type of thalassemia and whether one has the ‘minor’, ‘intermedia’ or ‘major’ form – defined by the number of genes that are altered. α-thalassemia is most commonly found in Africa, Middle East and India, while β-thalassemia is more prevalent in the Mediterranean.

Symptoms and treatment of thalassemia vary depending on type and severity of the condition. In mild cases, symptoms might be non-existent and treatment is not required – carriers only have the risk of passing the affected gene to their offspring. In moderate to severe cases, symptoms may include fatigue, weakness, pale or yellowish skin, slow growth, abdominal swelling, dark urine and facial deformities2,3. Babies with the most severe cases may be born stillborn, die shortly after birth, or require lifetime treatment2. Untreated patients might show growth retardation, jaundice, poor musculature, skeletal changes and severe anemia2. Lifelong transfusion therapies and iron chelation procedures to remove the excess iron that is accumulated are needed for moderate and severe cases. The excess iron in the body is one of the most severe complications of thalassemia treatment, as it can damage the heart, liver and other internal organs2,4. Additionally, spleen enlargement may occur due to the spleen overworking to remove all the damaged RBCs and avoid possible infections. While spleen removal is an option, it leaves the body more prone to infections. Other complications of thalassemia treatment include hypothyroidism, heart failure, liver and gall bladder problems, and diabetes2,4. A bone marrow transplant to eliminate the need for lifelong blood transfusions might be a treatment option for severe cases, and gene therapy to correct the mutated gene could be applied in the future.

Even though thalassemia is more common in specific countries, its prevalence is worldwide due to population migration and intermarriage between different ethnic groups. Thalassemia carriers do not exhibit any symptoms and may be unaware of their genetic status, but their children have 50% chance of being carriers and 25% chance of being affected. Therefore, thalassemia carrier screening is one of the most widely performed genetic tests, and countries that are most affected by thalassemia have developed their own screening programs. These programs vary in being either mandatory or voluntary; being offered premaritally, preconceptionally or prenatally; and on the public education and counselling provided. Examples of successfully implemented thalassemia screening programs are those of Italy and Cyprus. The region of Sardinia introduced a voluntary screening program in premarital and antenatal couples in 1975 which saw the thalassemia incidence fall from 1:250 to 1:4000 in 20 years, a 95% incidence decrease5. A ‘quasi-mandatory’ premarital screening program in Cyprus, where 1 in 7 people is a carrier of β-thalassemia, was implemented in collaboration with the Greek Orthodox Church since the early 1980’s6. The thalassemia laboratory tests couples free of charge and issues them a certificate to confirm the testing – which is required if the couples wish to be married by the church. Genetic counselling and information on reproductive options, like pre-implantation genetic diagnosis (PGD) or prenatal testing, is offered to them if they have a risk of having an affected child. This led to a significant decrease in the birth of affected individuals that had a beneficial role in improving the treatment of thalassemic patients – otherwise there would have been a significant blood shortage in the island7.

In addition to carrier screening, prenatal detection of thalassemia is possible through non-invasive prenatal testing (NIPT), a simple and painless procedure that tests the fetus’s DNA through a maternal blood sample, and compares it to the maternal and paternal DNA to check for the genetic status. Nowadays, NIPT is routinely used for chromosomal aneuploidies as it provides the expecting parents with information early, reassures them, and allows them to take informed decisions. Its use in monogenic disorders, like thalassemia, is novel and provides an alternative option to the more expensive PGD. Confirmation of high-risk pregnancies by invasive procedures, like chorionic villi sampling or amniocentesis is recommended.

Every year, 8th of May is celebrated as the International Thalassemia Day. The aims are to spread knowledge about thalassemia and raise awareness about a disease that used to be universally fatal, but now has excellent prognosis due to medical, social and political collaboration.

The VERAgene NIPT can detect thalassemia, along with 49 other monogenic disorders, 8 aneuploidies and 4 microdeletions from the 10th week of pregnancy. To learn more please visit NIPT results, possible next steps and clinical management should always be fully discussed with your healthcare provider.


1) National Human Genome Research Institute (2013),

2) May Clinic (2016),

3) Rare Diseases (2015),

4) Kids Health (2015),

5) Mitchell et al. (1996) ‘Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and b-thalassemia disease carriers in high schools’. American Journal of Medical Genetics; 59: 793-798.

6) Thalassaemia International Federation (2019),

7) Cousens E. et al. (2010) ‘Carrier screening for beta-thalassaemia: a review of international practice’. European Journal of Human Genetics, 18: 1077-1083.

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NIPD Genetics - Privacy Policy

General Statement

This Privacy Policy applies only to and its subdomains (hereafter collectively referred to as “Sites") that link to this policy. NIPD Genetics Sites are owned by NIPD Genetics Public Company Ltd and are operated by NIPD Genetics Public Company Ltd and on occasion by a third-party that is responsible for the technical maintenance of the Sites.

If, you do not agree with this Privacy Policy, please do not access or use any of NIPD Genetics Sites.

NIPD Genetics values your interest in NIPD Genetics, its products and its services. NIPD Genetics takes the protection of your data seriously.

Personal data for purposes of this Privacy Policy, is any information by which you can be individually identified, including, but not limited to, your name, profession, address, e-mail address, and telephone number.

You may contact NIPD Genetics Public Company Ltd at
NIPD Genetics Public Company Ltd
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NIPD Genetics Data Protection Officer can be reached at

This Privacy Policy applies only to the Sites as defined above and which are operated by NIPD Genetics. The NIPD Genetics Privacy Policy seeks to inform the users of its Sites of the following:

NIPD Genetics will not use or share your information with anyone, except as described in this Privacy Policy. This Privacy Policy does not apply to any information we might collect by other digital and offline means and or from other digital and offline sources. The use of information collected through our Sites shall be limited to the purposes under this Privacy Policy and our Terms of Use to customers.

This page informs you of our policies regarding the collection, use, and disclosure of personal data when you use our Sites and the choices you have associated with that data.

We use your data to provide and improve the Sites. By using the Sites, you agree to the collection and use of information in accordance with this policy. Unless otherwise defined in this Privacy Policy, terms used in this Privacy Policy have the same meanings as in our Terms and Conditions, accessible from

Type of personal information NIPD Genetics may collect through its Sites

Information Collection And Use

We collect several different types of information for various purposes to provide and improve our Sites and services to you.

Personal Data

While using NIPD Genetics Sites, you may be asked to provide NIPD Genetics certain personally identifiable information that can be used to contact or identify you ("Personal Information"). Personal Information that might be used to identify you includes, but is not limited to:

If you send us a query via our Contact us form, your email address, the content and any follow up emails are retained indefinitely.

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We may also collect information how the Sites are accessed and used ("Usage Data"). This Usage Data may include information such as your computer's Internet Protocol address (e.g. IP address), browser type, browser version, the pages of our Sites that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

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We use cookies and similar tracking technologies to track the activity on our Sites and hold certain information.

Cookies are files with small amount of data which may include an anonymous unique identifier. Cookies are sent to your browser from a website and stored on your device. Tracking technologies also used are beacons, tags, and scripts to collect and track information and to improve and analyze our Sites.

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 Sites.

Examples of Cookies we use:

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Use of Data uses the collected data for various purposes:

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Your information, including personal data, may be transferred to — and maintained on — computers located outside of 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. 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 data 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.

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NIPD Genetics complies with the protection of personal data regulation and will not sale or trade your personal data.

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

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The security of your data is important to us, but remember that no method of transmission over the Internet, or method of electronic storage is 100% secure. While we strive to use commercially acceptable means to protect your Personal Data, we cannot guarantee its absolute security.

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We may employ third party companies and individuals to facilitate, maintain or operate our Sites ("Service Providers"), to provide the SItes on our behalf, to perform service-related services or to assist us in analyzing how our Sites is 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.


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

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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

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You have the right to review, update or delete any of your personal data by sending a request at NIPD Genetics Personal Data Officer

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Our Sites 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.

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Our Service does not address anyone under the age of 18 ("Children").

We do not knowingly collect personally identifiable information from anyone under the age of 18. If you are a parent or guardian and you are aware that your Children has provided us with Personal Data, please contact us. If we become aware that we have collected Personal Data from children without verification of parental consent, we take steps to remove that information from our servers.

Changes to This Privacy Policy

We may update our Privacy Policy 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 Service, prior to the change becoming effective and update the "effective date" at the top 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.

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