Genetic Blood and Bleeding Disorders

Abstract

A genetic blood disorder is simply a blood disorder that is passed down from one generation to the next within families. They can be autosomal, which means that the gene mutated is located on a non-sex chromosome, or X-linked, referring to the X sex chromosome. Autosomal inheritance can either be dominant or recessive. A dominant trait only requires one of the pair of chromosomes to carry the gene with the mutation for the trait to present as a diseased phenotype. Recessive traits however, only present if both have the mutation. An X-linked inheritance means that males are more likely to have the disease because they only have one X chromosome, so if it has the mutation the disease is presented. Females are less likely to show symptoms because with 2 X chromosomes, if one is mutated and not the other, she would be a carrier of the disease. There are many different kinds of genetic blood disorders, with each separate mutation functioning in different mechanisms. In this chapter, we will discuss several genetic blood disorders and explore their cause, symptoms, diagnosis method, treatment, and prevalence.