Rare blood diseases are hematological disorders that are less common and more difficult to diagnose compared to other diseases. Most of these diseases are genetic in origin, chronic in nature, and require long-term treatment.
The symptoms of such diseases are sometimes confused with common blood problems. This leads to a delay in proper diagnosis. Patients' access to early diagnosis and treatment may be limited. The complexity and high cost of treatment methods are also among the main problems.
The National Center for Hematology and Transfusiology stated in response to an inquiry from Modern.az that there are currently 9 people living with rare blood diseases in Azerbaijan.
According to the information:
5 people (3 adults, 2 children) with Gaucher disease,
1 person (born in 1992) with Chester syndrome,
2 people (brothers) with Fabry disease,
1 person (8-month-old child) is registered with a diagnosis of Niemann-Pick disease.
It was noted that these diseases are not contagious and are inherited.
In Gaucher disease, some lipid substances are not broken down in the p, leading to enlargement of the liver and spleen, a decrease in blood cells, and bone problems.
Chester syndrome, as a result of genetic mutation, can lead to weakening of the immune system, severe infections, and blood clotting problems.
Fabry disease is associated with hereditary enzyme deficiency. In this condition, lipids accumulate in the blood vessel walls, which can lead to heart and kidney problems, as well as pain.
Niemann-Pick disease is characterized by a disorder of lipid metabolism. As a result, accumulation occurs in the liver, spleen, and other organs, and the nervous system can be damaged.
According to experts, these diseases are found in an average of one in every 100,000 people worldwide.
