Hemoglobins abnormalities

Abnormal hemoglobulins can be detected by electrophoresis, as shown in Figure 7.4, which includes a pattern observed in /3+-thalassemia and one in a newborn with a-thalassemia (possibly HbH disease). It should also be mentioned that, unless there is a coexisting hemoglobin abnormality resulting from a point mutation or crossover problem, the globin chains of classic a- and /3-thalassemia are perfectly normal. It is usually the quantities of either the a or the /3 chains that are decreased. Some frameshifts have been found near the terminus of the /3 chain that lead to frameshift mutations in certain areas. 

Many techniques useful for the detection, isolation, quantitation, and characterization of hemoglobin abnormalities have recently been reviewed (C14, H37, J29). In this survey a limited number of methods will be discussed with major emphasis on new developments. 

C14. Chernoff, A. I., and Horton, B. F., Laboratory approach to diagnosis of hemoglobin abnormalities. Clin. Obstet. Gynecol. 12, 76-114 (1969). 

Alternatively, sites adjacent to an abnormal gene may differ from those on normal chromosomes. Such linked polymorphisms have been found for the sickle cell gene and for several -thalassemias. Because different individuals having a particular hemoglobin abnormality will not... 

R. W. Woody, in Biochemical and Clinical Aspects of Hemoglobin Abnormalities ... 

A history of blood dyscrasias including genetic hemoglobin abnormalities, bleeding abnormalities, abnormal function of formed blood elements ... 

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