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[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.
See Also[edit]
References[edit]
Ad. Transform your life with W8MD's
GLP-1 weight loss injections special from $29.99 with insurance
|
WikiMD Medical Encyclopedia |
Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
