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Resources for Hematology Fellows

Case Study: 30 Year-Old Female with Pancytopenia and Fatigue

A 30-year-old woman is referred by her primary care physician for evaluation of pancytopenia. In addition to fatigue and easy bruising, the patient reports a history of unexplained lower extremity swelling and recurrent herpes infections. Her family history is significant for a maternal uncle and grandmother who both died from acute myeloid leukemia. Laboratory studies reveal:

White blood cells 2.0 K/μL (4.0-11.0 K/μL)
Absolute neutrophil count 0.4 k/μL (1.56-6.13 k/μL)
Absolute lymphocyte count 0.34 k/μL (1.18-3.74 k/μL)
Hemoglobin 7.8 g/dL (13.5-17.5 g/dL)
Platelets 24 k/μL (150-400 k/μL) 
B cells 0/μL (0.07-0.7 k/μL)
T cells 0.34/μL (0.67-2.95 k/μL)
Natural killer cells 0.1/μL (0.08-1.15 k/μL)


Bone marrow biopsy demonstrated 20 percent cellularity with megakaryocytic atypia including micromegakaryocytes and erythroid dysplasia without increased CD34+ blasts. Cytogenetic studies found trisomy eight in three of 20 metaphases examined.

For which inherited mutation is testing warranted?

  1. RUNX1
  2. GATA2
  3. FLT3
  4. TP53
  5. NPM1


  1. GATA2


This patient has myelodysplastic syndrome (MDS) in the background of a germline mutation in the GATA2 gene responsible for GATA2-deficiency syndrome.1 Haploinsuffiency in the GATA2 gene leads to a wide range of hematologic consequences, including aplastic anemia, chronic neutropenia, and an increased risk of developing MDS or acute myeloid leukemia (AML). Patients characteristically will have low or absent B cells, T cells, and natural killer cells. Recurrent herpes infections, lymphedema, and atypical mycobacterial infections are common in GATA2-deficiency syndromes. Identification of familial causes of MDS/AML is critical when screening potential sibling donors for stem cell transplantation as well as identifying additional carriers within a family.2

Case study submitted by James Cooper, MD, of the National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD.

  1. Ganapathi KA, Townsley DM, Hsu AP, et al. GATA2 deficiency–associated bone marrow disorder differs from idiopathic aplastic anemia. Blood. 2015 125:56-70.
  2. Babushok DV, Bessler M. Genetic predisposition syndromes: when should they be considered in the work-up of MDS?. Best Pract Res Clin Haematol. 2015 28:55-68.