Mediterranean anemia: causes, symptoms and remedies

There are several forms of Mediterranean anemia, which cause more or less severe symptoms. Compared to the past, early diagnosis is possible and more effective treatments are available.

  • It is not always the same
  • The diagnosis
  • Treatment

Ask for free advice from a doctor right away

L ‘ Mediterranean anemia or beta-thalassemia is an inherited blood disorder characterized by chronic anemia. The name derives from the Greek “thàlassa” (sea) and “haîma” (blood), and was chosen because of its diffusion in the Mediterranean basin area . The concentration of cases of Mediterranean anemia in Italy is mainly in the central-southern regions and in particular in Sardinia . At the base there is a mutation of the “beta” gene that inhibits the correct production of hemoglobin proteins , thus preventing the correct transport of oxygen. The cause is a hereditary genetic defect, that is, that is transmitted from mom or dad to children.

It is not always the same

Mediterranean anemia can be of three different types. The least severe form, which is called the ” thalassemic trait “, is characterized by the mutation of only one allele (ie a single copy of the gene) of beta-globin: a slight anemia occurs , but in principle there are no disorders and you are a healthy carrier. It is useful to know this situation because of the need to examine the partner and offer genetic counseling.

There is also an intermediate form, also called non-transfusion dependent thalassemia , less severe, which, as the name implies, often does not require transfusions even if they may be required with age.

Finally, the most severe form of Mediterranean anemia, beta-thalassemia major or Cooley’s disease , also called transfusion-dependent thalassemia. In this case, both alleles of beta globin are affected . The therapy is complex and consists of regular blood transfusions , removal of the spleen when necessary, drug treatment of excess iron , bone marrow transplant and gene therapy.

The diagnosis

The first step in diagnosing Mediterranean anemia is the interview. “Generally the presence of a form of microcytic anemia, that is a smaller volume of red blood cells, for example less than 80 fl (femtoliters) in adults, and one or more family members healthy carriers, are more than sufficient indications”, explains Silverio Perrotta, director of the Treatment Center for Thalassemia and Hemoglobinopathies of the Vanvitelli University of Naples.

The tests that are required to confirm the diagnosis of Mediterranean anemia are basically three:

  • blood countthat shows increased red blood cell count, normal or slightly decreased hemoglobin, and lower red blood cell volume (MCV)
  • evaluation of sideremiatransferrin and ferritin which allows to exclude an iron deficiency anemia
  • hemoglobin electrophoresisto assess the percentage of hemoglobin F and A2 (the latter increases in beta thalassemia).

Ask for free advice from a doctor right away

“When the two partners are both carriers it is possible, in case of pregnancy, to carry out the prenatal diagnosis “, adds Silverio Perotta. “In this case it is advisable to contact a genetic counseling center or a reference center for thalassemia since doctors and biologists specialized in the field work there.”

Among the main tasks that genetic counseling sets out is first of all to inform the couple about the 25% risk of giving birth to a child with thalassemia, what form of thalassemia the unborn child could have and what are the current complications of the unborn child. disease, survival data and therapeutic possibilities. Finally, the couple receives information on the possibility of carrying out prenatal diagnosis and on how it is carried out.

Treatment

Treatment depends on the type and severity of Mediterranean anemia . It must be said that compared to 20 years ago, quality and life expectancy have improved significantly thanks to early diagnosis and advances in treatment.

Transfusion therapy

It consists of blood transfusions to be carried out regularly according to a rhythm established by the doctor or, in the case of mild forms, at particular moments in life such as during pregnancy or following haemolytic crises caused by infections . “The objective of the transfusions is to correct the severe anemia from which the thalassemia patient suffers and to increase the activity of the bone marrow”, explains Silverio Perotta. «With the correct transfusion regimen it is possible to suppress the erythropoietic activity which leads to the production of inefficient red blood cells. This helps to prevent growth retardation, organ damage and bone deformations, allowing normal physical activities and a normal quality of life to be carried out ».

Chelation therapy

The big side effect of blood transfusions is the accumulation of organ iron . It is a rather common event that can occur after a dozen transfusions. The reference test for the diagnosis is first of all the serum ferritin assay , which is an index of the deposition iron. However, it can give many false positives, since this value can also increase in the case of infections and inflammations. “The organ diagnosis of iron overload is significantly improved with MRI of the liver and heart,” continues the specialist. “It is a non-invasive , repeatable, standardized technique that allows for the monitoring of iron chelation therapy.”

Great strides have also been made in the area of treatment . For many years, especially before 2000, the only drug available to remove iron from the body was desferrioxamine : this substance was administered subcutaneously by slow infusion through a pump, for about 8-10 hours a day, for 5 to 7 hours. days a week. Today, two oral chelators are available , deferiprone, which is administered three times a day, and deferasirox, which is administered once a day orally and represents a big step forward for patients’ quality of life.

A new cure

There is much anticipation for an innovative drug that has received approval from US and European regulatory bodies and which will soon be approved in Italy. “Luspatercept has the ability to ‘incorporate’ some of the substances that contribute to the premature death of red blood cells in the bone marrow,” says Silverio Perotta. “The drug is administered subcutaneously every three weeks and has made it possible to reduce the number of transfusions. In particular, it was seen in an experimental study that 70% of thalassemia patients dependent on transfusions reduced the need for transfusions by a third and 10% even halved transfusions “.

Bone marrow transplant

It is the definitive cure in the case of the form of Mediterranean anemia called transfusion-dependent beta thalassemia. However, in order to carry out the transplant it is essential to identify compatible donors . Generally it is a brother or sister, but it is also possible to activate a search among bone marrow donors. “The aim is to replace the stem cells carrying the defective genes for the synthesis of globin with normal stem cells”, continues Silverio Perotta. «The operation consists in taking bone marrow from the donorand in its infusion into the patient after having “eliminated” the cells of his marrow with the use of drugs ». The donor recovers within a week, while for the patient the times are longer. The most important complications of a bone marrow transplant are rejection, infections and the so-called graft versus host reaction. The success rate of a transplant is now in the order of 90%.

Gene therapy

The goal is to make patients with thalassemia independent of transfusions . “To achieve this goal, a study was conducted on nine patients, three adults, three adolescents and three children under six years with a severe form of beta-thalassemia, who underwent gene therapy,” explains the specialist. “In practice, the patient’s cells were removed, modified in the laboratory by transferring the healthy gene and reinfused into the patient himself. The results of the study, supported by Telethon, opened up new perspectives for care . Three years later, there was a reduction in the number of transfusions for adults, while total independence was achieved in three of the six youngest patients.. In recent years, other gene therapy protocols have been opened both in adults and in children suffering from transfusion-dependent thalassemia with excellent results ».

 

by Abdullah Sam
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