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 visithttps://www.nipd.com/veragene/. NIPT results, possible next steps and clinical management should always be fully discussed with your healthcare provider.
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.
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.
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persons with regards to the processing of personal data and for the free movement of such data (L.
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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:
Postal address: 31 Neas Engomis street, 2409 Engomi, Nicosia, Cyprus
Telephone number: + 357 22266888
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We collect and process several types of personal information from and about users of our websites
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Your personal information is collected by NIPD Genetics for the following purposes:
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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:
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.
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.
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.
agreement to that transfer.
NIPD Genetics will take all reasonable steps necessary to ensure that your data is treated securely and
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 General Data Protection Regulation and will not sell or trade your
NIPD Genetics may disclose your personal information in the good faith that such action is necessary:
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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
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PERSONAL DATA RETENTION
We may retain collected information even after you remove it from the website, our Services, or our
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personal information in accordance with applicable law.
We may employ third party companies and individuals to facilitate, maintain or operate our websites
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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.
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Our websites may contain links to other sites that are not operated by us. If you click on a third-party
of every site you visit.
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your legal rights in accordance with data protection laws. These rights are as follows:
The right to withdraw consent at any time – in cases where processing is based on your
The right of access – at any given time you have the right to know what information about you
we hold and receive information about the processing activities we perform
The right to rectify – you have the right to correct, amend and complete personal data that is
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The right to restriction of processing – this applies in the event:
You dispute the accuracy of your personal information and until it is verified
You oppose to the deletion of personal data and ask instead to delete the use of it
The personal information is no longer necessary for us
You object to the processing and we are considering whether our legitimate grounds
for processing prevail over the reasons you oppose to the processing
The right to data portability – at any given time you have the right to receive the personal
information we hold about you in a structured, commonly used and machine-readable format
(pdf, word etc.). You also have the right to request that these data are transferred to another
service in a safe and secure way
You also have the right to lodge a complaint at any time to the Office of the Commissioner for Personal
We encourage you to contact us, should you wish to practice any of your legal rights or you have any