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Aplastic Anemia: Acquired and Congenital Forms

Bone marrow failure syndromes and modern immunosuppressive therapy

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Aplastic Anemia: Acquired and Congenital Forms?

Aplastic anemia is defined by pancytopenia with hypocellular bone marrow without infiltration or fibrosis.

Severity is graded by neutrophil count, platelet count and reticulocyte count, with severe and very severe categories.

Acquired aplastic anemia results from immune-mediated destruction of hematopoietic stem cells, usually idiopathic but sometimes triggered by drugs, hepatitis or pregnancy.

Inherited bone marrow failure syndromes include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia and severe congenital neutropenia.

Diagnostic workup includes bone marrow biopsy, cytogenetics, flow cytometry, telomere length, chromosome breakage testing and genetic panels.

Symptoms

Fatigue, pallor and exertional dyspnea due to anemia.
Easy bruising, petechiae, mucosal bleeding and prolonged bleeding from minor injuries due to thrombocytopenia.
Recurrent or severe infections, fevers, pneumonia or sepsis from neutropenia.
Inherited syndromes may show short stature, skeletal anomalies, skin or nail dystrophy, hyperpigmentation and developmental delays.
Hepatosplenomegaly, lymphadenopathy or marked B symptoms suggest alternative diagnoses.

Risk Factors

Exposure to benzene, pesticides, certain drugs (chloramphenicol, gold) and radiation.
Recent viral infections including hepatitis non A non B non C, EBV, CMV and parvovirus.
Pregnancy and recent pregnancy may precipitate acquired aplasia.
Family history of bone marrow failure, early gray hair, lung fibrosis or solid tumors suggests inherited syndromes.
Patients with paroxysmal nocturnal hemoglobinuria clones often coexist with aplastic anemia.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent fatigue, breathlessness, easy bruising or unusual bleeding warrants blood count evaluation.
  • Fever in a patient with known low neutrophil count is a medical emergency.
  • Children with unexplained cytopenias and physical anomalies should be referred for inherited workup.
  • Pregnancy associated cytopenias require urgent hematology consultation.
  • Worsening cytopenias on follow-up or new dysplastic features need bone marrow reassessment.

Treatment Methods

01
Severe acquired aplastic anemia in young patients is treated with HLA-matched sibling allogeneic stem cell transplantation when feasible.
02
First-line immunosuppressive therapy combines horse antithymocyte globulin, cyclosporine and the thrombopoietin receptor agonist eltrombopag.
03
Refractory or relapsed cases may receive second course immunosuppression, alternative donor transplantation or rabbit ATG.
04
Inherited syndromes require disease-specific management: Fanconi anemia uses reduced-intensity transplant, dyskeratosis congenita avoids alkylators, Shwachman-Diamond manages exocrine pancreatic insufficiency.
05
Supportive care includes transfusions, iron chelation, infection prophylaxis, vaccinations and surveillance for clonal evolution into MDS or AML.

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.