Laboratory Identification, Screening, Education, and Counseling for Abnormal Hemoglobins and Thalassemias
With presently available laboratory methodology, virtually all of the clinically significant hemoglobin disorders as well as their heterozygous carrier states can be identified accurately, rapidly, and by relatively inexpensive means. In addition, most of these conditions can now be reliably detected in the newborn and in the fetus in utero. By the application of these diagnostic techniques, affected carriers can be identified and provided accurate information about their genetic risks, and if desired antenatal diagnosis may also be carried out to determine the hemoglobin genotype of a potentially affected fetus. The development of centers that offer these types of genetic services has progressed rapidly since the early 1970’s, and these programs are continuing to assume increasing importance in many areas of the world. As an introduction to a discussion of these issues, the following section briefly reviews the most commonly employed laboratory methods for the identification of these disorders and their carrier states, as well as the rationale for their application.
KeywordsHigh Performance Liquid Chromatography Sickle Cell Disease Sickle Cell Mean Corpuscular Volume Globin Gene
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