Standardization on laboratory diagnosis of thalassemia and abnormal hemoglobin.
Thalassemia is one of the most common single gene disorders. The geographic distribution of thalassemia and abnormal hemoglobin has been known for many years. A worldwide significant spread of these abnormal genes, especially from Southeast Asia, occurred in the last two decades. This has resulted in a dramatic increase of Hb E disorders and various Southeast Asian thalassemia genotypes, which means that requests for hemoglobinopathy investigations are likely to increase in many laboratories worldwide. Hemoglobinopathy screening and diagnosis may need to be undertaken antenatally, neonatally and in certain hematological situations. The introduction of automation for hemoglobinopathy screening, including the automated cell counting and HPLC system, is an important advance in technology for hematology laboratories. The instruments need to be calibrated and standardized to get an accurate data for interpretation. Internal and external control samples are also needed. Combination of test results is usually required to achieve a proper diagnosis, which in turn, provide a self-check for each laboratory test.
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Thailand.
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Fucharoen
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Winichagoon
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Piankijagum
D000328:Adult; D004909:Erythrocyte Indices; D004912:Erythrocytes / Q000166:cytology; D005260:Female; D006403:Hematologic Tests / Q000592:standards*; D006443:Hemoglobin A2 / Q000378:metabolism; D006452:Hemoglobinometry; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011785:Quality Assurance, Health Care; D012015:Reference Standards; D015203:Reproducibility of Results; D013785:Thailand; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2