Alpha (α) thalassemia (α-thal) is one of the most common inherited hemoglobin (Hb) disorders. This type of thalassemia is characterized by reduction or absence of the α-globin chain synthesis due to deletion or mutation of α-globin gene on chromosome 16 (16p13.3).More than 95% documented cases of α-thal report the deletion of one or both α-globin genes. 1 These gene deletions cause mild α + -thal and severe α 0 -thal. The most common mutations of α 0 -thal in the Thai population are the South-East Asian (--SEA ) and Thai (--Thai ) type deletions; the --SEA deletion is approximately 19.3 kb in length, covering both functional α-globin genes but leaving the ζ-globin gene intact, and the --Thai type deletion is approximately 34-38 kb in length, spanning over both α-globin genes as well as the ζ-globin gene. 2,3 -Thal --SEA -Thal --CR e120 |

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Background Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases. Methods We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences–Clinical Services Center (AMS-CSC), Chiang Mai, Thailand. Results A total of 100 (98.0%) DNA specimens were completely concordant between the microarray and reference methods, whereas discrepancies between the different methods were observed in only 2 DNA specimens with homozygous hemoglobin E (HbE). Conclusions The microarray appeared to be a fast, easy to perform, and accurate method for simultaneous detection of α- and β-thalassemias in Thailand and Southeast Asian countries. However, this technique needs to be improved and validated in a larger number of specimens with homozygous HbE before further routine laboratory use.