Update in Laboratory Diagnosis of Thalassemia

Frontiers in Molecular Biosciences
Thongperm MunkongdeeKittiphong Paiboonsukwong

Abstract

Alpha- and β-thalassemias and abnormal hemoglobin (Hb) are common in tropical countries. These abnormal globin genes in different combinations lead to many thalassemic diseases including three severe thalassemia diseases, i.e., homozygous β-thalassemia, β-thalassemia/Hb E, and Hb Bart's hydrops fetalis. Laboratory diagnosis of thalassemia requires a number of tests including red blood cell indices and Hb and DNA analyses. Thalassemic red blood cell analysis with an automated hematology analyzer is a primary screening for thalassemia since microcytosis and decreased Hb content of red blood cells are hallmarks of all thalassemic red blood cells. However, these two red blood cell indices cannot discriminate between thalassemia trait and iron deficiency or between α- and β-thalassemic conditions. Today, Hb analysis may be carried out by either automatic high-performance liquid chromatography (HPLC) or capillary zone electrophoresis (CE) system. These two systems give both qualitative and quantitative analysis of Hb components and help to do thalassemia prenatal and postnatal diagnoses within a short period. Both systems have a good correlation, but the interpretation under the CE system should be done with caution because Hb A2 is ...Continue Reading

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Citations

May 4, 2021·Blood Research·Jee-Soo LeeMoon-Woo Seong
Aug 14, 2021·Frontiers in Physiology·Ahlem AchourCornelis L Harteveld
Nov 13, 2021·Medicine·Tang-Her JaingChia-Chi Chiu

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Methods Mentioned

BETA
electrophoresis
genotyping
PCR
dot blot
dot-blot
PCRs

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