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A 2LJ-year-old Amish Female is referred For evaluation of anemia. Patient states she had a splenectomy as a child For anemia. and other siblings also underwent splenec tomy. Physical examination reveals no lymphadenopathy. Laboratory evaluation is significant For hemoglobin 9.2 g/dl. mean corpuscular volume (MCV) 121 FL. leuko cyte count 7.LJOO/.uL. and platelet count 565,000/JLL. Direct antiglobin test is nega tive. LDH is mildly elevated with decreased haptoglobin level. Peripheral slide is shown below.
What is the most likely diagnosis?
- Autoimmune hemolytic anemia (AIHA)
- Hereditary spherocytosis (HS)
- Pyruvate kinase deficiency (PK deficiency)
- Iron-deficiency anemia
- Vitamin B12 deficiency
Medicine
C. Peripheral blood smear reveals increased reticulocytes, echinocytes (burr cells), nucle ated RBC, and Howell-Jolly bodies. There is no evidence of spherocytes and RBC exhibit normochro mia with macrocytosis. The clinical picture in context with the patient's social and cultural background is most consistent with PK deficiency-associated hemolytic anemia. PK deficiency is common in the Amish population and has been traced to a single founder mutation. Absence of spherocytes argues against the diagnosis of HS. This feature, in addition to a negative direct antiglobin test, rules out AIHA. Normochromia with macrocytosis are not consistent with the diagnosis of iron-deficiency anemia. While vitamin B12 deficiency can result in anemia, patient with such a degree of deficiency would be expected to exhibit variable levels of leukopenia and thrombocytopenia. Confirming low levels of PK activity is essential for the correct diagnosis (J Clin Pathol. 1999;52( 4):241, Br J Haematol. 2005;130(1):11, Blood. 1994; 83: 2311).
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