Sickle Cell Disease

Sickle cell disease (SCD) is the most common genetic blood disorder in the world. Millions of people in the world have SCD and about 300,000 babies are born with it each year. Readers will learn about the major symptoms of SCD, including chronic anemia, delayed growth, spleen dysfunction, opportunistic infections, vision loss, leg ulcers, stroke, and heart problems. The book explains how the primary cause of SCD is a gene mutation that causes hemoglobin to polymerize in red blood cells, making them adopt an abnormal sickle shape. Sickled cells carry less oxygen and occlude blood vessels in tissues and organs throughout the body. The reader will learn how SCD is inherited and how genetic testing can provide information that prospective parents can use to make reproductive decisions. The book presents treatments for SCD such as pain medications, antibiotic therapy, blood transfusions, and bone marrow transplantation. Future prospects for diagnosing, treating, and curing SCD are evaluated, including maternal blood screening, preimplantation genetic diagnosis, gene therapy, and genome editing.