How many people does Diamond-Blackfan anemia affect?

Diamond Blackfan anemia affects approximately 5 to 7 people per million live births per year. Thus in the United States, with 4 million livebirths per year, there are approximately 25-35 new patients born per year. There are several approximately 5000 cases world-wide.

Is Diamond Blackfan Anemia a disability?

Fanconi Anemia is not listed specifically under the Blue Book, the SSA’s resource for disabilities that qualify for benefits. This does not mean that people with FA cannot qualify. They will just need to list symptoms that are associated with other disorders.

What does Diamond-Blackfan anemia do to you?

In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body’s tissues. The resulting shortage of red blood cells (anemia ) usually becomes apparent during the first year of life.

Is Diamond Blackfan Anemia genetic?

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 .

Is Diamond Blackfan Anemia Macrocytic?

Clinical characteristics: Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals.

Does Audrey nethery have a disability?

But for Audrey Nethery, a YouTube dancing sensation, such videos have offered a global platform to raise awareness of a rare inherited bone marrow syndrome. Nethery was born with this disease, known as Diamond-Blackfan anemia.

What is the life expectancy of Diamond Blackfan anemia?

Diamond-Blackfan anemia life expectancy A “remission” is defined as a stable hemoglobin adequate for age, maintained for at least six months, without any corticosteroids, transfusions, or other therapy.

What kind of blood disorder is Diamond Blackfan?

Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. [1]

How does a Diamond Blackfan anemia registry work?

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Diamond-Blackfan anemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.