First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia

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Abstract
Sickle cell anemia is one of the most common human autosomal recessive disorders. It is caused by a mutation substituting thymine for adenine in the sixth codon (GAG to GTG) of the gene for the β-globin chain on chromosome 11p, thereby encoding valine instead of glutamic acid in the sixth position of the globin chain. The frequency of sickle cell trait (carrier status) among the African American population at birth is about 8%, and the incidence of sickle cell anemia at birth is 0.16%, or 1 per 625 births.1 Furthermore, the widespread presence of the sickle gene in other ethnic groups has also been confirmed.2 For example, in urban centers in the United States, nearly 10% of patients with various sickling disorders identify themselves as non–African American.3

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