What are the symptoms of Diamond Blackfan anemia?

Diamond Blackfan anemia is characterized by moderate to severe deficiency of red blood cells (anemia). Sometimes white blood cells and platelets may be lower as well. Symptoms of anemia include rapid heartbeat, pale skin, sleepiness, irritability, poor appetite, and weakness.

What causes Diamond Blackfan anemia?

Diamond-Blackfan anemia, also known as acquired pure red cell aplasia, is usually diagnosed when a child is less than a year old. It’s caused by changes, or mutations, in their genes, which are the building blocks of DNA. Sometimes the genetic mutation is passed down from one parent to a child.

Is there a cure for Diamond Blackfan anemia?

Bone marrow transplant is the only treatment that is curative for Diamond-Blackfan anemia. Compatible means that the donor has the same types of proteins, called human leukocyte antigens (HLA), on the surface of their cells as the person with Diamond-Blackfan anemia who will be receiving the transplant.

How long do people with Diamond Blackfan live?

What are the survival rates of Diamond Blackfan anemia? Children with DBA can live long lives with treatments. Some people treated for DBA achieve complete remission and do not need treatment, meaning their symptoms go away for more than six months. This can last for years and can become permanent.

What does Diamond-Blackfan anemia affect?

Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body. The major function of bone marrow is to produce new blood cells.

What will happen if anemia is not treated?

Anemia if not treated for a long period can lead to serious complications. These include heart failure, severe weakness and poor immunity. Anemia is a medical condition in which the person does not have enough red blood cells or RBCs. The RBCs in the blood carry iron a specialized protein called hemoglobin.

Can Fanconi anemia Be Cured?

Fanconi anemia is a genetic disorder with no cure. Treatment is based on how low or abnormal the blood counts are and the age of the patient. Treating Fanconi anemia can include both short-term and long-term strategies: Short-term—to monitor the disease and control symptoms.

How do I know if I have Fanconi anemia?

Fanconi Anemia Diagnosis Doing a complete physical. Learning about the person’s medical history and the family’s medical history. Asking about current symptoms. Performing blood tests to check for low white blood cell, red blood cell and platelet counts, and other problems.

What type of disease is Diamond-Blackfan anemia?

Diamond-Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body.

How is Diamond Blackfan inherited?

Inheritance. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 45 percent of cases, an affected person inherits the mutation from one affected parent .