Sickle cell disease: from the beginning until it was recognized as a public health disease
نویسنده
چکیده
7 and preventive and therapeutic measures. The association between maternal immunization and newborn hemolytic diseases as well as resistance to malaria caused by Plasmodium vivax observed in carriers of the Duffy negative phenotype [Fy(a-b-)] illustrate these conditions.(11) The molecular basis of blood group polymorphisms is well understood. However, environmental factors that contribute to the appearance of polymorphisms are still unclear. The absence of polymorphisms in some blood group genes suggests that the maintenance of conserved sequences is important but not indispensable from the biological point of view. For example, the FUT1 gene (19q13.3) that controls the expression of the H type 2 antigen in hematopoietic tissue is monomorphic, but its absence in the Bombay phenotype appears to offer no biological disadvantage. In contrast, the variability observed in other genes, for example, the FUT2 gene (19q13.3) supports the concept that blood group polymorphisms in the population are maintained by balanced selection mechanisms. However, the bases of this form of selection are still unknown.(10,12) Studies such as the one by Visentainer et al. are aligned to the contemporary interest in understanding the significance of polymorphisms in biological systems and populations and contribute to elucidate the results of evolutionary pressure that created and maintain genetic, genotypic and phenotypic variability of human blood group systems. The gene polymorphisms of the human blood groups are very diverse and are an attractive research field. This is a universe to be unraveled. References
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