Heterozygotes present with mild clinical picture with fully compensated hemolysis whereas homozygotes and compound heterozygotes like hereditary elliptocytosis in combination with beta thalassaemia trait present with severe hemolytic anaemia due to mutual enhancement of involved genes4.
Other acquired causes of elliptocytosis should be investigated which include iron deficiency anaemia, folate or B12 deficiency, thalassaemia, etc.
Chediak-Higashi syndrome: An accelerated phase with hereditary
elliptocytosis. Ann Saudi Med 2001; 21(34):221-224.
One month prior to admission, a peripheral smear showed elliptocytosis. Physician's notes from the outpatient workup indicate that a peripheral smear was reviewed 2 years earlier and there was no mention of elliptocytosis or spherocytosis at that time.
Review of the peripheral smear showed marked elliptocytosis (Figure 1).
It can be positive in hereditary
elliptocytosis and autoimmune hemolytic anemia.
These particles include red cell fragments, microspherocytes, nucleated RBCs, nonlyzed RBCs,
elliptocytosis, macrothrombocytes, platelet clumps, bacteria, parasitic organisms, and other interfering substances such as cryoglobulin, cold agglutinin, and macroglobinemia.
G6PD and pyruvate kinase concentrations were within reference intervals, and a presumptive diagnosis of hereditary
elliptocytosis was made.
Some red cell abnormalities (e.g., hereditary
elliptocytosis) may not be detected by instrument flags or messages.
Hereditary spherocytosis RBC spectrin RBC ankyrin Hereditary
elliptocytosis RBC spectrin Hereditary pyropoikilocytosis RBC spectrin Hemolytic anemia - Glucose- G-6-PD 6-phosphate dehydrogenase deficiency Hereditary nonspherocytic PDH hemolytic anemia - Pyruvate kinase deficiency Porphyrias Various genes encoding enzymes of the heme biosynthesis pathway