Congenital hypoplastic anemia

Congenital hypoplastic anemia
Synonyms	Diamond-Blackfan anemia
Pronounce	N/A
Specialty	N/A
Symptoms	Anemia, pallor, fatigue, shortness of breath, growth retardation
Complications	Heart failure, iron overload, leukemia
Onset	Infancy
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history, genetic predisposition
Diagnosis	Blood test, bone marrow biopsy, genetic testing
Differential diagnosis	Aplastic anemia, Fanconi anemia, Shwachman-Diamond syndrome
Prevention	N/A
Treatment	Corticosteroids, blood transfusion, hematopoietic stem cell transplantation
Medication	Prednisone, deferoxamine
Prognosis	N/A
Frequency	5 to 7 per million live births
Deaths	Variable, depending on complications

Congenital Hypoplastic Anemia also known as Diamond-Blackfan Anemia (DBA), is a rare, inherited blood disorder that affects the bone marrow.

Overview

DBA is characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients to become severely anemic. The disorder usually manifests itself within the first year of life.

Symptoms

The symptoms of DBA may include fatigue, weakness, pallor, and slow growth. In addition, some individuals may have deformities of the thumbs, forearms, and/or upper arms and abnormalities of the heart and urinary system.

Causes

DBA is caused by mutations in one of several genes, including the RPS19 gene. These mutations lead to a shortage of red blood cells, which can cause the signs and symptoms of this condition.

Diagnosis

Diagnosis of DBA is based on the presence of typical clinical features and is confirmed by genetic testing.

Treatment

Treatment for DBA may include corticosteroids, blood transfusions, and in severe cases, a bone marrow transplant.

See Also

• Anemia
• Bone Marrow Transplant
• Corticosteroids
• RPS19

References

• National Institutes of Health
• Genetics Home Reference