Congenital Aplastic Anemia Overview

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Learn About Congenital Aplastic Anemia

View Main Condition: Anemia

What is the definition of Congenital Aplastic Anemia?
Congenital aplastic anemia is a rare, serious condition where an infant is born with an abnormality of the bone marrow that leads to inadequate production of red and white blood cells (erythrocytes and granulocytes) and platelets (cell fragments that produce blood clotting). Infants born with congenital aplastic anemia often have several other congenital abnormalities, such as small heads, kidney abnormalities, abnormalities of the forearms and thumbs, other skeletal abnormalities, heart and lung defects, abnormalities of the urinary and genital tracts, and an increased risk of developing cancers, such as gastrointestinal malignancies and leukemia.
What are the symptoms of Congenital Aplastic Anemia?
Symptoms of congenital aplastic anemia include fatigue, pale skin, shortness of breath, rapid or irregular heart rate, headache, dizziness, fever, frequent or prolonged infections, rash, bruising easily, nosebleeds and bleeding gums, and uncontrolled bleeding. In severe cases, congenital aplastic anemia can be fatal.
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What are the current treatments for Congenital Aplastic Anemia?
While there is no cure for congenital aplastic anemia, treatment includes red blood cell and platelet transfusions; immunosuppressant medications, such as cyclosporine (Gengraf, Neoral, and Sandimmune) and anti-thymocyte globulin; corticosteroids; and bone marrow stimulants, such as the colony-stimulating factors, sargramostim (Leukine), filgrastim (Neupogen), pegfilgrastim (Neulasta), epoetin alfa (Epogen/Procrit), and eltrombopag (Promacta). Antibiotics or antivirals may be administered for infections. Some selected individuals with severe aplastic anemia may be considered for stem cell transplant.
Who are the top Congenital Aplastic Anemia Local Doctors?
Ricardo Pasquini
Elite in Congenital Aplastic Anemia
Ricardo Pasquini
Elite in Congenital Aplastic Anemia
Ricardo Pasquini
Curitiba, PR, BR 

Ricardo Pasquini practices in Curitiba, Brazil. Mr. Pasquini is rated as an Elite expert by MediFind in the treatment of Congenital Aplastic Anemia. His top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Acute Promyelocytic Leukemia, Aplastic Anemia, and Bone Marrow Transplant.

Elite in Congenital Aplastic Anemia
Dr. Parinda A. Mehta
Pediatric Hematology Oncology
Elite in Congenital Aplastic Anemia
Dr. Parinda A. Mehta
Pediatric Hematology Oncology
3333 Burnet Ave, Ml 11009, 
Cincinnati, OH 
513-636-0278
Languages Spoken:
English
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Parinda Mehta is a Pediatric Hematologist Oncology provider in Cincinnati, Ohio. Dr. Mehta is rated as an Elite provider by MediFind in the treatment of Congenital Aplastic Anemia. Her top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Aplastic Anemia, Anemia, and Bone Marrow Transplant.

 
 
 
 
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Elite in Congenital Aplastic Anemia
Paula D. Rio
Elite in Congenital Aplastic Anemia
Paula D. Rio
Madrid, MD, ES 

Paula Rio practices in Madrid, Spain. Rio is rated as an Elite expert by MediFind in the treatment of Congenital Aplastic Anemia. Their top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Aplastic Anemia, and Anemia.

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What are the latest Congenital Aplastic Anemia Clinical Trials?
The Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia: an Ethnographic Study
The Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia: an Ethnographic Study
Enrollment Status: Recruiting
Publish Date: December 17, 2025

Background: Fanconi anemia (FA) is a rare, inherited cancer syndrome. FA causes a range of physical issues. Children with FA may have abnormal features; these may include a small head and eyes and issues with their internal organs. Young adults have a much higher risk of cancer. To screen for these cancers, people with FA may need to pursue many visits with different doctors. This constant need for cancer scr...

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Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study
Enrollment Status: Recruiting
Publish Date: December 09, 2025

Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...

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