What is Thalassemia?

Thalassemia is a genetically inherited blood disease, found in many countries around the world, particularly in people of Mediterranean, Middle-Eastern and Asian origin. The two main types of Thalassemia are: Thalassemia Trait and Thalassemia Major. There is another less severe form of the disease called Thalassemia Intermedia. In this case, patients need less frequent blood transfusions to improve their quality of life, but not in order to survive.

When a person inherits one defective gene, he is said to have Thalassemia trait or he is a carrier. This is not a disease. It is a transmissible recessive trait. That is why prevention at this level is so important.

Thalassemia Major is an inherited genetic disease that is passed from parents to children through the genes. It is not infectious and cannot be passed on from one individual to another by personal or any other contact, through blood transfusion, food or air.

It is a serious anemia that usually starts at 3 months to 2 years of age. Treatment of Thalassemia Major requires frequent blood transfusions and continuous chelation therapy to keep the iron level normal in the blood and other vital organs.

Thalassemia Carriers or Trait are individuals who have inherited a normal haemoglobin gene from one parent and the defective gene from the other parent.

They have no physical or mental symptoms and do not require a special diet or medical treatment. The condition cannot become a serious disease over time - indeed, most carriers will be unaware that they carry the trait unless specifically tested.

How is it inherited?

Thalassemia Major can be inherited when both parents are carriers of Thalassemia.

There are three possible outcomes at every pregnancy:

The risk of having Thalassemia child:

If both parents are carriers, the risk of having a Thalassemia child is 25 % with every pregnancy; therefore, each pregnancy carries a 1 in 4 risk of delivering a patient with Thalassemia.

What is the Carrier rate and the expected number of Newborns affected with the disease?

Worldwide:

- An estimated 7% of the global population is a carrier of an abnormal, or pathological, hemoglobin gene.

- Some 300,000 - 500,000 children with a severe hemoglobin disorder are born each year, of whom 30% have Thalassaemia.

In Lebanon:

- The carrier rate is estimated to be 2-3 %.

- The Chronic Care Center, the only specialized institution for the treatment of Thalassemics in Lebanon carried a study in 2000 on 2701soldiers representing the Lebanese community and confirmed a 2.3 % carrier rate.

- The expected number of newborn Thalassemia patients according to WHO document in 1994 is 46 ß Thalassemia patients per year.

- Data from the Chronic Care Center, shows that the number of new Thalassemia patients born have decreased by 75 %, from more than 20 cases / year in 1994 to less than 5 in the last 6 years before 2017.

Why do we need to prevent Thalassemia?

1. The disease is preventable.
2. It is easily detectible by doing a blood test: Hemoglobin Pattern testing using High Performance Liquid Chromatography (HPLC) technique.
   Carriers will have an HbA2> 3.5% (borderline levels 3.1-3.5% need further genetic testing for confirmation).
   
   
3. It necessitates life time treatment and regular medical follow-up including frequent blood transfusions.
4. The treatment of the disease is very costly (10,000-30,000$/year/patient).
5. The financial, medical and psychological burden of this condition is very heavy on the patient, family and the society at large.
   Prevention is an effective tool to reduce the number of birth of affected children and can ultimately lead to the eradication of the disease. It contributes to building healthier generations.

How to prevent Thalassemia?

Before marriage:

• Test yourself to know if you are a carrier of Thalassemia by performing hemoglobin testing by HPLC technique.
  Perform the test in a reliable laboratory and consult a hematologist for the interpretation of the results. This test is available at the Chronic Care Center.
• If you are about to get married take seriously the premarital testing.
  
• If you are carrier and your partner too, you should know the risks of having a thalassemic child and the options to prevent it.

For more information, you can consult a hematologist or contact the prevention unit at the Chronic Care Center.

After marriage

• If one partner is healthy and is not carrier, there is no risk of having a Thalassemic child.
  
  However, if one parent is a carrier, children may be carriers like their parent. They should have their blood tested at some time before they have children of their own.
• If both partners are Thalassemia carriers, there are several options but the decision differs due to cultural and religious beliefs.

1. 1. They can decide not to have a child or more.
   2. They can decide to do prenatal diagnosis (test the baby before birth) through geneting testing of fetus early in pregnancy by:
   • • Chorionic Villous Sampling (CVS), sampling of placental tissue at 10-12 weeks of gestation.
     • Amniocentesis, by a small needle 30 ml of amniotic fluid is removed and tested for fetal defects at 16 weeks of gestation.
       
       

     • Genetic testing of blastomers, Preimplantation Genetic Diagnosis ( PGD) using IVF technique
       Pre-implantation genetic diagnosis (PGD) for β-Thalassemia and/or Sickle Cell Anemia represents an alternative within prenatal diagnosis services, providing couples the chance to start a pregnancy with an unaffected fetus.
       
       
       
       Patients aiming for PGD have to go through in vitro fertilization (IVF).  Embryos obtained by in vitro fertilization (IVF) are tested for genetic disorders  prior to their implantation in the uterus and before the pregnancy’s onset

All above tests are available in the laboratories of the Chronic Care Center

The Prevention Program at the Chronic Care Center:

This National program was launched in 1994 in collaboration with the Ministry of Social Affairs. It targets the general population, high risk groups and families of patients. It includes educational activities, screening and data analysis.

1. Education

• Awareness Campaigns at the national level to inform about the disease and to promote premarital test.
  Around 8000 persons per year are attending these sessions (in villages, schools, universities, etc...)
  
  
• Training of trainers
  The Center provides training for around 100 health professionals per year to promote awareness in their community all over the Lebanese regions.
• Publication of educational material: books brochures posters



• Celebration of World Thalassemia Day, 8th of May every year.
  
  
  
  

2. Screening:

• The Chronic Care Center organizes campaigns for free screening (testing) to identify new carriers in the general population ( schools, universities) and high risk group: (brothers/sisters, cousins, family members of Thalassemics).
  
  
• The Genetics Laboratory provides counseling of identified carriers and prenatal tests:
  • Genetic testing of CVS or amniotic fluid.
  • Pre-implantation Genetic Diagnosis for Beta Thalassemia.

3. Surveillance:

• Updated registry of Carriers and patients at the Center and data analysis.
• Collaboration with policymakers at the Ministry of Public Health.

Lebanon a Success Story:

The prevention program along with the implementation of the Premarital Law by the Ministry of Public Health succeeded in decreasing the number of newborns with Thalassemia Major by more than 75% despite the legal and cultural limits.
Data showed that the average number of newborns before and after 1994 were: 20 cases / year for 8 years before 1994 and less than 5 cases / year for the last 6 years.

Graph 1

Graph 2