060 - Hemoglobin defects and their laboratory evaluation

Autor(s): R. Galanello, MD. Cipollina, F.R. Demartis, M.C. Sollaino, S. Satta, D. Loi, L. Perseu, F. Anni

Issue: RIMeL - IJLaM, Vol. 3, N. 1, 2007 (MAF Servizi srl ed.)

Page(s): 60-64

The hemoglobinopathies include quantitative and/or qualitative genetic disorders caused by mutations affecting the genes responsible for hemoglobin synthesis. Based on the gene involved and the type of defect, the hemoglobinopathies can be broadly classified into thalassemias (alfa, beta, delta beta) and abnormal structural variants. The laboratory investigation include determination of RBC indices, hemoglobin pattern, quantification of HbA2, HbF and detection of Hb variants by HPLC. Sequencing of the amplified globin gene DNA allows easy and quick identification of the molecular defect.

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