A Child with an HE-Variant Disorder
Rajesh K. Malik, MD, and Donald J. Innes, MD
Departments of Pediatrics and Pathology
University of Virginia Health Sciences Center
Charlottesville, Virginia
A 2-year-old Caucasian male was referred to the University of Virginia after his mother noted an acute onset of yellow discoloration of his eyes in association with brown urine a few days after having been diagnosed with a viral illness. He was noted to be pale but was otherwise alert and active and a complete blood count obtained by his local pediatrician revealed anemia with a hemoglobin of 7.6 g/dl. The serum bilirubin was elevated and consisted primarily of unconjugated bilirubin. On further questioning the mother reported the patient having had one previous episode of jaundice and dark urine associated with an intercurrent upper respiratory infection. The past medical history was unremarkable and the child was thriving and developing normally. The drug history was negative and the family history was unremarkable.
On examination at the University of Virginia, the child appeared healthy and playful and in no acute distress. He had pale conjunctivae and the jaundice had resolved. There was a systolic flow murmur. No visceromegaly was noted and the rest of the examination was entirely within normal limits.
Laboratory work up showed a hemoglobin of 7.0 g/dl, reticulocyte count of 10%, MCHC 30.9, RDW 15.3. The peripheral blood smear appeared quite normal with only occasional elliptocytes noted.There was polychromasia and occasional large platelets were present, and the white cells were normal. The Coomb's test was negative. The serum lactate dehydrogenase level was elevated and serum haptoglobin level was decreased consistent with hemolytic anemia. Complete red cell enzyme analysis did not show any enzyme deficiencies, but did show elevated levels of a number of enzymes which was consistent with a chronic hemolytic anemia. Hemoglobin electrophoresis showed normal levels of hemoglobin A and A2 and no abnormal hemoglobins were noted. The Heinz body prep was negative and there was no evidence of an unstable hemoglobin. The incubated osmotic fragility test was normal.
The presence of normal CD 55 and CD 59 expression on peripheral blood mononuclear cells ruled out paroxysmal nocturnal hemoglobinuria. Even though the peripheral blood smear showed the presence of only rare elliptocyte forms, a red blood cell heat stability test was performed and representative images of the patient's and control red blood cells at room temperature and 49 degrees are shown.
Patient's red blood cells at room temperature
Patient's red blood cells at 49 degrees
Control red blood cells at room temperature
Control red blood cells at 49 degrees
The abnormal red blood cell heat stability test in conjunction with a few elliptocytes on the peripheral blood smear suggests that this case fits in the hereditary elliptocytosis family of disorders. Further work up to try and define potential abnormalities in red cell membrane proteins and their genes is ongoing.
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