Blackfan-Diamond syndrome is an inherited disease, characterized by anemia, usually diagnosed within the first 2 years of life. The main symptoms of the disease are pallor, discomfort to breathe, fatigue, malaise, developmental delay and heart disease.
Children usually have short necks and short stature. The diagnosis is made through blood tests, which detect the low production of blood cells. The treatment is done according to the needs of the patient. Corticosteroid transfusions are indicated regularly to keep the individual stable. If left untreated, the disease can become more serious, leading to the development of leukemia.
Ultrasonography and follow-up during pregnancy are recommended for all patients with Blackfan-Diamond syndrome.
