Rare anemias usually appear at early ages (neonatal, infantile or juvenile) because most of them are congenital in origin, and last throughout life, although with variable intensity or associated clinical manifestations. Rare anemias of congenital origin are transmitted by inheritance and are also known as hereditary. For this reason, a family study of both parents is often essential for diagnosis.
Are there different types?
Yes, there are different types of rare anemias depending on their origin. In general, they are due to red blood cell defects, whose survival in the circulation is shortened (hemolysis) or to defects in their formation in the bone marrow (aplasia or dyserythropoiesis).
What are the symptoms?
The main symptoms are those of all anemia:
- Tiredness.
- Breathing difficulties.
- Lack of appetite.
- Headaches.
- Drowsiness.
There are other general symptoms, which may be associated with extra-hematological manifestations, such as vaso-occlusive crises (sickle cell anemia), central nervous system disorders (neuropathy) or accumulation of glycogen in the liver (glycogen storage in the liver (glycogenosis).
What causes rare anemias?
The vast majority of rare anemias are due to mutations in the genes responsible for the synthesis of the proteins that form a structural part of the red blood cell: hemoglobin, such as sickle cell anemia; membrane, such as hereditary spherocytosis; and metabolic enzymes, such as Fabism.
How should they be treated?
For the time being, the only treatment available to hematology specialists is palliative by means of blood transfusions, administration of iron chelators and, in forms with significant impairment of quality of life, surgical removal of the spleen (splenectomy). Experimental treatments using drugs or therapeutic targets or gene therapy are currently being tested, but the only treatment for the disease is bone marrow transplantation (BMT) which, due to its potential complications, is only used in extremely severe cases.
Is it possible to prevent them?
When one of these rare diseases is known to exist in a given family, the only means of preventing them is genetic counseling.