Congenital hypoplastic anemia: Difference between revisions
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{{Infobox medical condition | |||
| name = Congenital hypoplastic anemia | |||
| synonyms = [[Diamond-Blackfan anemia]] | |||
| field = [[Hematology]] | |||
| symptoms = [[Anemia]], [[pallor]], [[fatigue]], [[shortness of breath]], [[growth retardation]] | |||
| complications = [[Heart failure]], [[iron overload]], [[leukemia]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]], [[genetic predisposition]] | |||
| diagnosis = [[Blood test]], [[bone marrow biopsy]], [[genetic testing]] | |||
| differential = [[Aplastic anemia]], [[Fanconi anemia]], [[Shwachman-Diamond syndrome]] | |||
| treatment = [[Corticosteroids]], [[blood transfusion]], [[hematopoietic stem cell transplantation]] | |||
| medication = [[Prednisone]], [[deferoxamine]] | |||
| 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. | '''Congenital Hypoplastic Anemia''' also known as '''Diamond-Blackfan Anemia''' (DBA), is a rare, inherited blood disorder that affects the bone marrow. | ||
==Overview== | ==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. | 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== | ==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. | 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== | ==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. | 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== | ||
Diagnosis of DBA is based on the presence of typical clinical features and is confirmed by genetic testing. | Diagnosis of DBA is based on the presence of typical clinical features and is confirmed by genetic testing. | ||
==Treatment== | ==Treatment== | ||
Treatment for DBA may include corticosteroids, blood transfusions, and in severe cases, a bone marrow transplant. | Treatment for DBA may include corticosteroids, blood transfusions, and in severe cases, a bone marrow transplant. | ||
==See Also== | ==See Also== | ||
* [[Anemia]] | * [[Anemia]] | ||
| Line 21: | Line 33: | ||
* [[Corticosteroids]] | * [[Corticosteroids]] | ||
* [[RPS19]] | * [[RPS19]] | ||
==References== | ==References== | ||
* [[National Institutes of Health]] | * [[National Institutes of Health]] | ||
* [[Genetics Home Reference]] | * [[Genetics Home Reference]] | ||
[[Category:Blood Disorders]] | [[Category:Blood Disorders]] | ||
[[Category:Genetic Disorders]] | [[Category:Genetic Disorders]] | ||
[[Category:Rare Diseases]] | [[Category:Rare Diseases]] | ||
{{stub}} | {{stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:16, 4 April 2025
| 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[edit]
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[edit]
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[edit]
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[edit]
Diagnosis of DBA is based on the presence of typical clinical features and is confirmed by genetic testing.
Treatment[edit]
Treatment for DBA may include corticosteroids, blood transfusions, and in severe cases, a bone marrow transplant.
