Investigation of microcytosis: a comprehensive approach

Eur J Haematol. 1996 Jul;57(1):54-61. doi: 10.1111/j.1600-0609.1996.tb00490.x.

Abstract

Microcytosis is a highly prevalent finding during blood examination. This study investigates the causes of microcytosis (defined as mean corpuscular volume (MCV) < 82 fl) in 466 patients referred to our laboratory for suspected hemoglobinopathy. The following data were obtained: Hb, MCV, serum iron, transferrin, ferritin, HbA2, HbF, isoelectric focusing of the Hb, gene mapping of chromosome 16 with Xba I and Bgl II and hybridization with an alpha- and a zeta-probe, inflammatory status. Results show that iron deficiency remains the first cause of microcytosis (35.2% of our patients), even in a selected population such as ours. Deletional alpha-thalassemia, probably the most frequent hemoglobinopathy throughout the world, represents the second most frequent cause of microcytosis (31.1%), followed by beta-thalassemia heterozygous state (18.9%). Of our patients, 1.3% had microcytosis due to the presence of an abnormal hemoglobin (HbC, Hb S/C, HbE). Three cases (0.6%) had other possible causes of microcytosis. Of the remaining 60 cases, 28 had an inflammatory state. Finally, 32 cases (6.9%) remain unexplained; taking into consideration the origin of these cases, their hematological parameters and their family history, we postulate that these cases are at high risk for non-deletional alpha-thalassemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 16
  • Erythrocyte Indices
  • Erythrocytes, Abnormal*
  • Gene Deletion
  • Hemoglobin C Disease / blood
  • Hemoglobin E
  • Hemoglobin SC Disease / blood
  • Hemoglobinopathies / blood*
  • Hemoglobinopathies / genetics
  • Heterozygote
  • Humans
  • Inflammation / blood
  • Iron Deficiencies
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics

Substances

  • Hemoglobin E