Are there genetic tests associated with Aplastic Anemia (Bone Marrow Failure)?

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: February 25, 2025 • View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

From the Guidelines

Yes, there are genetic tests associated with aplastic anemia, and genetic testing is recommended for patients with suspected inherited forms or those who don't respond to standard immunosuppressive therapy, as stated in the most recent study 1.

Importance of Genetic Testing

Genetic testing helps distinguish between acquired and inherited forms of aplastic anemia, which is crucial because treatment approaches differ significantly. Inherited forms may require specialized management, family screening, and consideration of stem cell transplantation from unaffected donors.

Testing Process

The testing process usually involves blood samples for DNA extraction and may include targeted gene panels, whole exome sequencing, or chromosomal breakage tests depending on clinical suspicion, as mentioned in 1.

Associated Genes

These tests typically look for mutations in genes like TERT, TERC, DKC1, TINF2, FANC genes, and others associated with bone marrow failure syndromes, as discussed in 1 and 1.

Clinical Implications

Additionally, certain genetic findings may predict response to treatments or identify patients at higher risk for progression to myelodysplastic syndrome or leukemia, highlighting the importance of genetic counseling to help patients understand the implications of results for themselves and family members, as emphasized in 1 and 1.

Key Considerations

It is essential to consider the possibility of Fanconi anaemia, especially in childhood aplastic anaemia, and liaison with the referring clinician regarding appropriate testing, as noted in 1.

Recent Guidelines

Recent guidelines, such as those updated in 1, provide a framework for managing aplastic anemia, including the use of genetic testing to guide treatment decisions and predict outcomes.

From the Research

Genetic Tests for Aplastic Anemia

  • Genetic tests can identify mutations that cause or predispose to bone marrow failure in patients with Aplastic Anemia (AA) 2.
  • Germline variants in genes associated with inherited bone marrow failure syndromes, such as Fanconi anemia, can contribute to the onset and progression of acquired AA 3.
  • Genetic testing can help diagnose unrecognized inherited bone marrow failure syndromes (IBMFS) in patients with severe aplastic anemia (SAA) 4.
  • Patients with SAA can have an unrecognized IBMFS due to phenotypic heterogeneity, and genetic testing is required for optimal hematopoietic cell transplant outcomes 4.

Types of Genetic Tests

  • Exome sequencing can be used to identify germline genetic variants in IBMFS-associated genes 4.
  • In silico tools, such as REVEL, MetaSVM, and VEP, can be used to classify variants as deleterious 5.
  • Database resources, such as ClinVar and LOVD-FA, can be used to classify variants as pathogenic or likely pathogenic 5.

Clinical Significance of Genetic Tests

  • The presence of a single deleterious variant in a gene for Fanconi anemia in SAA patients does not affect overall survival after hematopoietic cell transplantation (HCT) 5.
  • Patients with unrecognized IBMFS have worse survival after HCT compared to those with acquired SAA 4.
  • Genetic testing can help tailor therapeutic regimens for patients with SAA 4.
  • Carriers of a pathogenic variant in an IBMFS gene can follow HCT regimens for acquired SAA 4.

References

1
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

5
Research

Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, 2020

Related Questions

What is the preferred analgesic for pain management during antibiotic treatment of diverticulitis?
What is the cause of unilateral ocular pain accompanied by headache?
Can a patient with one of the three peripheral blood findings, hypocellularity below 25%, and fibrosis be diagnosed with a myelodysplastic syndrome (MDS) or myeloproliferative neoplasm if all other conditions are ruled out?
What is the upper limit of Perindopril (Angiotensin-Converting Enzyme Inhibitor) dosing?
Can a patient without significant anemia or pancytopenia (a condition characterized by a reduction in the number of red and white blood cells, as well as platelets) still experience symptoms of aplastic anemia, and are these symptoms always related to low blood cell counts?
What is the history of present illness (HPI) for a patient experiencing vertigo (dizziness)?

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.

Ask Question