What is β-thalassemia?

Thalassemia is an inherited red blood cell disease that occurs in the first months of life. Β-thalassemia involves reduced or no synthesis of the β-globin chains that form hemoglobin (anemia). Red, β-thalassemic blood cells are damaged due to oxygen free radicals and are rapidly removed from the spleen. The red marrow (erythropoiesis) works a lot in trying to correct the anemia, but the mature cells (erythroid precursors) die before entering the circulation.

How is it transmitted?

If only one parent carries the gene for β-thalassemia, the children will have a 25% chance of being a carrier (A-β-thal, β-thal minor).
If both parents are carriers of the gene for β-thalassemia the children will have a 25% chance of having β-thalassemia major, 50% of being carriers (A-β-thal, β-thal minor) and 25% of % of being healthy.
If one of the parents is affected by β-thalassemia major, the child can be ill only if the other parent is also a carrier of β-thalassemia. Otherwise the child will turn out (A-β-thal, β-thal minor).

What are the main problems?

Thalassemia can cause heart, liver, kidney, bone problems, gallbladder stones, reduced growth and short stature. These problems are partly linked to the accumulation of iron in the organs resulting from the regular transfusions these patients undergo.

Is there a treatment for iron buildup?

The thalassemics are subjected to regular transfusions (eg monthly) and with these they accumulate quantities of iron that can cause serious problems to some target organs such as the heart, liver, pancreas. For this reason, thalassemics must perform daily treatment to eliminate excess iron (iron chelation).

How is excess iron removed?

Through three different drugs: Deferoxamine which is administered subcutaneously through small pumps for 8-12 h / day. Deferasirox or deferiprone, which are taken orally. The reference center for hemoglobinopathies provides patients with the indications.

Is physical exercise indicated?

Yes, but in moderation. If you feel tired you must reduce the intensity of the exercise since each of us has their own muscle performance. The person with thalassemia must take moments of rest when he feels tired, avoid muscle contractures that can be triggered by stress, forced positions (eg work, family, outdoor activities).

Can a β-thal woman have children?

Yes, but following the instructions of the doctors of the referral center. Partner screening and prenatal diagnosis are important.

Is there a definitive cure?

There is no definitive cure. Bone marrow transplantation in young patients with low iron accumulation and available donor can be considered a definitive cure.

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