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Aplastic Anemia (Detailed Review)

Bone marrow failure with pancytopenia, often immune-mediated against hematopoietic stem cells.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

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 (Detailed Review)?

Aplastic anemia (AA) is a rare hematologic disorder characterized by pancytopenia and a hypocellular bone marrow without abnormal infiltrate or fibrosis. Annual incidence is 2-3 per million in Western countries, higher in East Asia. The pathogenesis is most often autoimmune destruction of CD34+ hematopoietic stem cells by oligoclonal cytotoxic T cells producing interferon-gamma and TNF-alpha.

Inherited bone marrow failure syndromes (Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, Shwachman-Diamond) account for around 20% of pediatric cases and must be ruled out with chromosome breakage and telomere length tests. Acquired causes include benzene, chemotherapy, radiation, hepatitis-associated AA, drugs (chloramphenicol, sulfa drugs), pregnancy, and clonal disorders (PNH, MDS overlap).

Severity is graded using Camitta criteria. Severe AA (SAA) requires marrow cellularity below 25% plus two of: ANC under 0.5, platelets under 20, reticulocytes under 60. Treatment depends on age, severity, and donor availability. HLA-matched sibling allogeneic HSCT is first-line for patients under 50 with SAA. Otherwise, horse ATG plus cyclosporine plus eltrombopag yields response rates of 70-80%.

Symptoms

Fatigue, pallor, dyspnea (anemia)
Petechiae, easy bruising, mucosal bleeding (thrombocytopenia)
Recurrent or severe infections, fever (neutropenia)
Headache, dizziness, weakness
Tachycardia, palpitations
Heavy menstrual bleeding
Gum bleeding, epistaxis
Retinal hemorrhages (severe thrombocytopenia)
Mouth ulcers, oral thrush
Pneumonia or sepsis
Skin rash from drug exposure
Iron overload signs (long-term transfusion)
Inherited syndrome features (cafe-au-lait, short stature, abnormal thumbs)
Reactive lymphadenopathy or hepatosplenomegaly (rare)

Risk Factors

Benzene or organic solvent exposure
Chemotherapy or radiation therapy
Drugs: chloramphenicol, sulfonamides, NSAIDs, anticonvulsants
Viral hepatitis (seronegative AA)
EBV, parvovirus B19, HIV infections
Pregnancy-associated AA
Inherited syndromes: Fanconi anemia, dyskeratosis congenita, GATA2 deficiency
PNH-AA syndrome
Pesticide exposure
Asian ethnicity (higher incidence)
Autoimmune diseases (eosinophilic fasciitis, SLE)
Thymoma (associated PRCA)
Younger and older age peaks (bimodal)

When to See a Doctor?

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

  • Persistent fatigue with pallor and dyspnea
  • Unexplained bruising or petechiae
  • Recurrent or severe infections
  • Heavy bleeding or gum bleeding
  • Pancytopenia on routine CBC
  • Pediatric short stature with bruising
  • Family history of bone marrow failure
  • Symptoms after benzene or chemotherapy exposure
  • Persistent low blood counts after pregnancy
  • Severe thrombocytopenia under 20

Treatment Methods

01
Hematology referral and bone marrow biopsy with cytogenetics
02
Rule out inherited syndromes: chromosome breakage (Fanconi), telomere length (DC), GATA2 sequencing
03
PNH flow cytometry to detect clonal evolution
04
MDS overlap workup with FISH and next-generation sequencing
05
Severity grading (Camitta criteria) and risk stratification
06
HLA typing of patient and siblings
07
Allogeneic HSCT from matched sibling donor: first-line for SAA in under 50
08
Matched unrelated donor HSCT for refractory cases
09
Immunosuppressive therapy: horse ATG plus cyclosporine plus eltrombopag (first-line if no donor)
10
Eltrombopag salvage for refractory AA
11
Cyclosporine maintenance for at least 12 months tapered slowly
12
Supportive care: leukoreduced and irradiated blood products
13
Avoid HLA alloimmunization (single-donor platelets)
14
Iron chelation if ferritin over 1000 (deferasirox)
15
Antimicrobial prophylaxis: fluoroquinolone, posaconazole, acyclovir
16
Vaccinations as appropriate (avoid live vaccines)
17
G-CSF only short-term in selected cases
18
Pregnancy management: increase ATG-cyclosporine dosing post-partum
19
Long-term surveillance for clonal evolution to MDS, AML, PNH
20
Genetic counseling for inherited syndromes
21
Psychosocial support and patient education

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.