Case 250 -- Anemia and Thrombocytopenia

Contributed by Melissa Halpern, MD
Published on line in November 2000


PATIENT HISTORY:

The patient is a three year-old female who presented with a history of thrombocytopenia and nosebleeds and easy bruising for two weeks, clinically thought to be consistent with Idiopathic Thrombocytopenic Purpura. A bone marrow was performed to rule out acute leukemia.

LABORATORY DATA:

PERIPHERAL BLOOD AND BONE MARROW DESCRIPTION AND DIAGNOSIS:

Peripheral blood smears demonstrated a severe hypochromic microcytic anemia (Figures 1, 2) with nucleated red blood cells (Figure 3) and thrombocytopenia. Red blood cell morphology showed striking (3+) anisocytosis, polychromasia, and basophilic stippling (Figures 4, 5), as well as moderate (2+) hypochromia, microcytosis, and poikilocytosis, and mild (1+) target cells and fragments (Figure 6). A rare immature myeloid cell was seen on scanning (Figure 7). Platelets were decreased with giant forms (Figure 8).

Examination of the bone marrow aspirate and biopsy (Figures 9, 10, 11 and 12) demonstrated normocellular trilineage hematopoiesis with marked erythroid predominance and megakaryocytosis. The myeloid/erythroid ratio was markedly decreased at 0.3. Erythroid maturation was megaloblastoid with dyserythropoietic forms. Megakaryocytes were present in moderately increased forms.

The patient's findings were thought to be consistent with idiopathic thrombocytopenic purpura. In addition, the patient's microcytic hypochromic anemia, elevated RDW and decreased iron may be consistent with iron deficiency anemia in combination with blood loss. Further work-up was recommended.

FAMILY HISTORY:

The patient was born in Canada to parents of Southeast Asian descent (Thailand). Additional history of an "abnormal hemoglobin" in one parent was obtained.

HEMOGLOBIN ELECTROPHORESIS:

Graphic representation (Figure 13) of the hemoglobin electrophoresis of the patient's blood on cellulose acetate at pH 8.5 demonstrates 25.9% Hb A1, 21.1% Hb F, and 53% "other" Hb, which migrates with the Hb C group (Table 1).

A picture of the actual cellulose acetate gel (pH 8.5) shows a prominent electro-phoretic band migrating with the hemoglobin C group (arrows, Figure 14, left).

A picture of the hemoglobin electrophoresis on a citrate agar gel, pH 6.0 shows the prominent band now migrating with the Hb A group (arrows, Figure 14, right).

FINAL DIAGNOSIS


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