[Atypical familial microcytosis: a familial and genetic study]

Med Clin (Barc). 1998 Feb 14;110(5):183-5.
[Article in Spanish]

Abstract

The characteristics of familiar atypical microcytosis studied during one year were evaluated. Out of 149 patients with microcytosis in whom iron deficiency was ruled out, a heterogenous beta-thalassemia was diagnosed in 72 cases, a heterozygous delta beta-thalassemia in 16 cases and a hemoglobinopathy in 3 cases. The microcytosis was related to an inflammatory anemia in 12 cases and to an hemopathy in 9 cases. An atypical microcytosis was detected in 37 patients. A familiar and molecular analysis was carried out to detect alpha-thalassemia in cases with atypical microcytosis. It was possible to complete the familiar and molecular analysis in 35 out of 37 cases, and an alpha-thalassemia was observed in 31 patients. Most cases proved to be heterozygous or homozygous-alpha 3.7-thalassemia. No patient with heterozygous alpha zero-thalassemia was found. Most cases of familiar atypical microcytosis in our country are due to -alpha 3.7-thalassemia. Bearing these findings in mind, this analysis should only be used in situations where a problem of prenatal diagnosis is present. Moreover, systematic molecular analysis of familiar atypical microcytosis could be justified if the MCV is lower than 75 fl.

Publication types

  • Comparative Study
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA / analysis
  • Data Interpretation, Statistical
  • Diagnosis, Differential
  • Electrophoresis
  • Erythrocyte Indices
  • Erythrocytes, Abnormal*
  • Gene Amplification
  • Hemoglobinopathies / blood
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / genetics
  • Humans
  • Middle Aged
  • Polymerase Chain Reaction
  • ROC Curve
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • DNA