Ep 56: Hemoglobinopathies in Pregnancy
Practice Bulletin #78 - Published Janury 2007 (Reaffirmed 2018) 1. Sickle cell trait (heterozygous for the mutation) is generally asymptomatic; sickle cell disease can have severe consequence 2. Sickle cell disorders are more common among individuals of African descent, whereas the thalassemias are more common among individuals of Southeast Asian and Mediterranean descent. 3. Alpha thalassemia results from deletion of any number of the four genes that code for the alpha chain. The more deletions, the worse the presentation. 4. Beta thalassemia results from mutation of one or both of the genes that code for the beta chain. Severity of disease is determined by presence and degree of functionality within intact genes. 5. Sickle cell disease is a risk factor for preterm delivery, IUFD, IUGR, etc., therefore, antepartum fetal surveillance is recommendedShow Notes Wine pairing: 2018 Sainte Marie Corbieres from Domaine Faillenc Theme music by Evan Handyside Logo design by JD Dotson (jddotson1@gmail.com)