Identification of patients with defects in the globin genes by analysing blood parameters and genetic study: Report of five cases

Abstract

Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. The laboratory investigation includes determination of RBC indices, hemoglobin pattern, serum ferritin, quantification of HbA2, HbF and detection of Hb variants by HPLC (High performance liquid chromatography). Furthermore, in order to accurately identify thalassemia through molecular identification of globin gene, useful insights are provided by family studies and comprehensive hematological analyses.

We have analyzed five cases with borderline hematological parameters. Four of these five cases involve pregnant women that have come to our observation to undergo first trimester combined test. Due to the uncertainty of the biochemical and hematological parameters, it was necessary to evaluate the globin genes to detect mutations causing haematological borderline values.

The aim of this paper is to highlight that the biochemical diagnosis alone, in some cases, is not sufficiently reliable to highlight the carriers of thalassemia trait.

The evidence suggests that the molecular analysis of globin genes provides the most effective way to correctly detect carriers of thalassemia trait. The detected mutations in this work can be identified with a simple and inexpensive kit. This would generate, in economic terms, significant savings.