Thalassemia

In Thalassemia disease, blood cells cannot carry the oxygen that is needed by our body. Oxygen is carried to the tissues by linking to hemoglobin, which constitutes 90% of our blood cells. Oxygen carriage cannot be sufficiently done in case there is insufficiency or breakdown in hemoglobin formation and the symptoms of the disease such as paleness, weakness, fatigue, tachycardia, growth retardation are seen.

Due to the frequency of the disease in the couples, it is recommended to have necessary examinations done before marriage and receive genetic counseling in case of the diagnosis of the disease. Thanks to the developing genetic diagnosis and treatment methods, a thalassemia carrier couple can have a baby with IVF treatment. Thus, it would be prevented to transport the disease to the next generations.

What Are Thalassemia Types?

There are 3 types of Thalassemia. Alpha thalassemia, thalassemia intermedia and thalassemia major. Thalassemia symptoms vary based on thalassemia types.

Varying from person to person, the most common symptoms of thalassemia are as follows:

• Yellow or pale skin

• Dark color urine

• Headache

• Anorexia

• Extreme weakness

• Infantilism

• Malformations particularly in the bones in the face

• Extreme anemia

• Dyspnea

• Abdominal distension and hypersplenism

• Hepatitis

• Nervousness

What Are The Reasons of Thalassemia?

Thalassemia occurs as a result of abnormal changes in one of the genes in charge of hemoglobin production. This change in the genes is hereditary from your parents. In this case, it can be said that either mother or father or both of them are thalassemia carrier. Mediterranean anemia or thalassemia occurs with the gene undergoing change passing to the child. If there is thalassemia in one of the parents, this eventually leads to alpha thalassemia disease.

In this case, the person is thalassemia carrier even if there are no symptoms of thalassemia. Alpha thalassemia carriers are usually not aware of this condition. The disease is revealed in any blood test. If both of the parents are thalassemia carriers, the thalassemia types would be thalassemia major and thalassemia intermedia. Thalassemia major is the most serious one among these thalassemia types. Persons inborn with this disease should be under medical observation.

How is Thalassemia Treatment Given?

Alpha thalassemia is the most frequent thalassemia disease and it usually does not require treatment.

Thalassemia intermedia can be treated by blood transfusion and folic acid supplements. A Thalassemia major (Beta Thalassemia) patient should be given blood every 3-4 weeks all life. Folic acid is a vitamin necessary for red blood cells of the body. There is only one certain treatment method in the treatment of major thalassemia cases. And this can be possible through bone marrow transplantation. Furthermore, it could be necessary to have splenectomy or remove the gall bladder during the thalassemia treatment process.

Thalassemia Carrier Couples and IVF Treatment

If a child is thalassemia major, both mother and father should be thalassemia carrier. Statistically while one out of 4 children of thalassemia carrier couples is thalassemia major, the two children can be thalassemia carriers and one can be healthy.

In order to prevent the transport to the next generations and have healthy babies, IVF and PGT-M treatment are made.

In IVF treatment, embryos can be scanned before transferring to the uterus to start healthy pregnancies.

Through IVF and PGT-M treatment, in addition to Thalassemia, healthy pregnancies can be obtained for the couples with single gene disorders such as Cystic Fibrosis, Fragile X syndrome and Huntington’s disease.

You can contact us to obtain detailed information about the treatment.