It is an inherited blood disorder observed in many countries around the world. It is frequently seen in a belt that includes the Mediterranean, Italy, Greece, Spain, Cyprus, the southern and western coasts of Turkey, Pakistan, India, the Far East, and the West Indies.

It is estimated that there are approximately 2 million carriers globally.

How Many Forms Are There?

Thalassemia Carrier (Thalassemia Minor): These individuals are entirely healthy. If both parents are carriers of thalassemia, they can pass the thalassemia gene to their children, causing thalassemia disease.
Thalassemia Major (Mediterranean Anemia, Mediterranean Hemophilia, Cooley’s Anemia, or Homozygous Beta Thalassemia): It is a very severe blood disease that starts in infancy. These children cannot produce enough hemoglobin required for themselves. There is no definitive cure for this disease, and it requires frequent blood transfusions, medical treatment, and sometimes bone marrow transplantation.

Every year, 100-150 such affected children are expected to be born in Turkey, and at least 100,000 worldwide.

What is Thalassemia Carrier?

Thalassemia carriers are not sick, but some may have mild anemia.
The majority of thalassemia carriers do not know that they carry this disease, but they may find out when they have a child with thalassemia major or when they undergo a specific blood test.
In thalassemia carriers, red blood cells are smaller than normal.
In thalassemia carriers, the Hemoglobin A2 level is higher than in normal individuals.
Thalassemia carrier status can be passed from parents to children, is hereditary, and continues throughout life.
Thalassemia carrier status is not a contagious disease.

If You Are a Thalassemia Carrier, What Could Be the Consequences?

It is important to know if you are a thalassemia carrier because thalassemia carriers can have children with the severe blood disease Thalassemia Major.

How Can You Know If You Are a Thalassemia Carrier?

You need to undergo a specific blood test. Doctors will decide by measuring the size of your red blood cells and the level of hemoglobin A2. Thalassemia carriers cannot be identified without a blood test, and most carriers do not know they are carriers unless they have this test done specifically. Therefore, individuals in the high-risk group should undergo a blood test to determine if they are carriers.

How is This Test Done in Individuals?

The special test for thalassemia carrier status is not a routine blood test and must be specifically requested. The test is conducted in two stages. First, red blood cells are measured, and if they are found to be small, then HbA2 levels are determined. High levels of HbA2 are a definite indication of thalassemia minor.

What is the Frequency of Thalassemia Carrier Status in Turkey?

In general, 2 or 3 out of every 100 healthy individuals are thalassemia carriers. This rate varies according to risk regions.

Who are the Individuals in the Risk Group in Turkey, and Who Should Prioritize Carrier Testing?

In regions originating from the Mediterranean, up to Izmir (including Antakya, Adana, Mersin, Antalya, Denizli, Mugla, and Izmir);
Thrace immigrants; from Crete, Rhodes, Lesbos, Greece; those originating from Bulgaria, Macedonia, Bosnia-Herzegovina;
Those of Azerbaijani origin;
In Edirne, Kirklareli, Isparta, and Batman;
Among the Turkish Cypriots;
Individuals with children diagnosed with thalassemia major or those identified as thalassemia carriers should prioritize this test.

Is a Thalassemia Carrier Considered Sick?

No. Therefore, they do not require any medical treatment. However, in some carriers, symptoms of anemia may be mistakenly considered as iron deficiency, and iron treatment may be administered. Therefore, in individuals receiving anemia treatment without improvement, the possibility of beta-thalassemia carrier status should be considered.

Are Thalassemia Carriers More Prone to Other Diseases?

No.

Is a Thalassemia Carrier Physically or Mentally Weak?

No.

Does Thalassemia Carrier Status Affect One’s Job or Gender?

No.

Can Any Treatment Change Thalassemia Carrier Status?

No, because it is an inherited condition.

Can Thalassemia Carrier Status Turn into Thalassemia Major?

No.

Is Genetic Analysis Necessary for Thalassemia Carriers?

No. However, if both individuals planning to marry are thalassemia carriers, genetic analysis should be performed before pregnancy for the application of prenatal diagnosis methods.

Why is it Important to Know if You are a Thalassemia Carrier?

If you are a thalassemia carrier, you may have mild anemia. This anemia can be mistakenly attributed to other causes of anemia, especially iron deficiency anemia. Carriers may be wrongly diagnosed with iron deficiency and treated accordingly. However, except in rare cases, thalassemia carriers do not require iron treatment, and iron can have harmful effects.

My Spouse and I are Thalassemia Carriers. What is the Risk for Our Baby?

If you and your spouse are thalassemia carriers, there is a risk of having a child with thalassemia major.

Your children can be sick, carriers, or normal. In each pregnancy, there is a 25% chance of being normal, a 50% chance of having a carrier child like you, and a 25% chance of having a child with thalassemia major.

Even if a family has a child with thalassemia major, there is still a 25% risk of having a child with thalassemia major in the second pregnancy.

My Spouse or I are Thalassemia Carriers. What is the Risk for Our Baby?

If one parent is a thalassemia carrier and the other is not, there is a 50% chance that the child will be a carrier. None of the children will have thalassemia major.

Thalassemia carriers are entirely healthy and unknowingly pass on thalassemia carrier status to subsequent generations. Therefore, it is necessary to be aware that your children may also be carriers and to have them undergo carrier testing.

What is Thalassemia Major?

It is a very serious blood disease.

When Does Thalassemia Major Occur?

Thalassemia major children are entirely normal at birth, and symptoms of anemia appear after three months. The color of the children fades, their sleep is disrupted, and their appetite decreases. If left untreated, they are lost between the ages of 1 and 8.

Can Thalassemia Major Be Prevented?

YES. Preconception tests determining carriers before marriage can be performed, and with these tests, it is possible to identify whether the baby will be sick or not before birth.

What are the Prenatal Techniques?

Two different methods can be applied:

Preimplantation genetic diagnosis: By using in vitro fertilization (IVF), the selection of embryos that are not sick can be made.
Chorionic villus biopsy, amniocentesis, and cordocentesis techniques can be used to determine whether the baby is sick, a carrier, or healthy by using DNA analysis methods on samples obtained from the baby.

Can Thalassemia Major Be Treated?

The main treatment for thalassemia major is blood transfusions performed every 4 weeks. Most children receiving transfusion treatment live until their twenties. In later years, other treatments are also needed.

After each blood transfusion, the given red blood cells begin to break down. The iron produced by this breakdown accumulates in the body. If the iron is not removed from the body, it accumulates in the liver, heart, and other parts of the body, causing significant disorders. To prevent iron accumulation, iron-binding drugs need to be administered orally or subcutaneously through a pump for a lifetime.

In thalassemia major children, successful Bone Marrow Transplantation (BMT) can be performed if a suitable donor is found.

Thalassemia major children who receive appropriate and regular treatment can work, get married, and even have children.

Since Thalassemia Major is an Inherited Disease, Can Gene Therapy be Applied?

Currently, gene therapy is not an option.

Are Mediterranean Anemia and Familial Mediterranean Fever Diseases the Same?

No. Although both are hereditary diseases, they are different conditions. Familial Mediterranean Fever (FMF) is a disease that manifests itself with attacks of fever, abdominal pain, joint pain, and chest pain and can progress to kidney failure if left untreated. However, some individuals may have both thalassemia carrier status and Familial Mediterranean Fever.

What Should I Do to Determine if I am a Thalassemia Carrier?

Consult your doctor to learn where the necessary tests to determine thalassemia carrier status can be performed in health institutions.