The Results of Hemoglobin Variant Analysis in Patients Revealing Microcytic Erythrocytosis on Complete Blood Count

Lab Med. 2018 Mar 21;49(2):147-153. doi: 10.1093/labmed/lmx071.

Abstract

Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited.

Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders.

Results: A diagnosis of thalassemia trait and/or a hemoglobinopathy was established in 93 of 137 (67.9%) patients. Amongst these, ß-thalassemia trait topped the list with 69 cases (74.1%), followed by hereditary persistence of fetal hemoglobin with 5 cases (5.5%), Hemoglobin E disease with 4 cases (4.3%), and ∂/ß-thalassemia with 2 cases (2.1%). Compound heterozygous conditions with 1 or more hemoglobinopathies and/or thalassemias were diagnosed in 13 cases (14.0%). Abnormal hemoglobins in the compound heterozygosity group included C, S, HPFH, and 2 unknowns.

Conclusion: Hemoglobin variant analysis provided a very high positive yield in determining the etiology of microcytic erythrocytosis.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Blood Cell Count*
  • Chromatography, High Pressure Liquid
  • Erythrocyte Indices
  • Female
  • Hematologic Tests
  • Hemoglobinopathies* / blood
  • Hemoglobinopathies* / diagnosis
  • Hemoglobins, Abnormal / analysis*
  • Hemoglobins, Abnormal / chemistry
  • Humans
  • Male
  • Middle Aged
  • Thalassemia* / blood
  • Thalassemia* / diagnosis

Substances

  • Hemoglobins, Abnormal