What is it?
Hereditary anemias are a large group of blood diseases characterized by reduced hemoglobin concentration either due to excessive red blood cell destruction or insufficient production. They can be due to defects in the membrane of red blood cells (e.g. spherocytosis, ellipsocytosis), defects in globin chains (e.g. thalassemia, sickle cell anemia) or enzymatic defects (e.g. favism or G6PD deficiency). Among the most frequent are thalassemia (or Mediterranean anemia) and sickle cell anemia. In both cases is common in Italy the status of healthy carrier. Being a carrier does not involve clinical disorders, usually carriers are asymptomatic. However, from two carrier parents a child can be born with a severe form of the disease, such as thalassemia major (or Coley's disease) or sickle cell anemia (or drepanocytosis).
Which are the symptoms?
Patients may experience typical symptoms of anemia, including fatigue, pallor, fatigue, tachycardia, and shortness of breath. If there is increased destruction of red blood cells (or hemolysis), there may also be jaundice (yellowish skin and mucous membranes), dark urine, an enlarged spleen, gallstones, and an increased risk of thrombotic disease. In children, anemia can present with a lack of appetite, irritability, recurrent infections, abdominal or bone pain, growth abnormalities, and skeletal changes due to overactive bone marrow. A family history may be hereditary anemia, or the person who is sick may be the first in the family.
How is it diagnosed?
Diagnosis is based on personal and family history, general laboratory tests (CBC, hemolysis, reticulocytes, hemoglobin electrophoresis), peripheral blood smear observation, and second-level studies, including genetic tests based on clinical suspicion.
How is it treated?
Treatment options are extremely varied depending on the type of hereditary anemia and its severity, from simple clinical follow-up to regular blood transfusions and bone marrow transplants. In general, it is recommended to rely on regular clinical monitoring to control any iron overload and rule out gallstones associated with chronic hemolysis, and avoid self-administration of iron and vitamin supplements. Severe cases of thalassemia major or sickle cell disease are seen in specialized centers, where blood transfusions and treatment to remove excess iron are performed depending on clinical needs. In severe forms, the only effective therapy today is bone marrow transplantation. Transplantation is offered on a case-by-case basis, depending on the type of anemia, the severity and availability of the donor. In the future, gene therapy may provide some opportunity for complete recovery.
Where do we treat it?
Are you interested in receiving the treatment?