Written By: Dr. Emily Meier, Pediatric Hematologist and Sarah Hall, MHS, PA-C of Indiana Hemophilia and Thrombosis Center, Inc.
The United Nations Assembly designated June 19th as World Sickle Cell Day to promote education and public awareness about sickle cell disease (SCD). SCD comprises a variety of genetic illnesses in which healthy, adult hemoglobin (Hemoglobin A, HbA) is replaced by Hemoglobin S (HbS) with or without another abnormal hemoglobin. Common to all forms of SCD is the presence of abnormally stiff, sickle-shaped red blood cells (RBC). These abnormally shaped RBCs damage and obstruct blood vessels, leading to the many complications of SCD such as chronic anemia, organ damage, acute pain due to ischemia of bone marrow and bones (vaso-occlusive pain episode or crisis), strokes due to damage of cerebral blood vessels, splenic infarction which increases the risk of life threatening infection, and early mortality.
Each year, more than 400,000 babies are born around the world with SCD making it the most common single gene disorder, and approximately 100,000 Americans are living with the condition today. SCD can occur in any race or ethnic group, but it is most common in people of African, Hispanic or Mediterranean descent. In the US, 1 in 365 African American babies are born with sickle cell disease, while 1 in 16,300 Hispanics and 1 in 80,000 Caucasian newborns are affected. In Indiana over 1,200 individuals are currently living with SCD. On average, there are 35 infants born each year in Indiana with SCD or another hemoglobinopathy. In a typical year, 100% of these patients are racial/ethnic minorities.
Early family education about life-threatening complications of SCD and preventive antibiotics have decreased the risk of death among children with SCD. Even so, average life expectancy for someone with SCD is 40 or 50 years. All infants born in the US are screened for SCD. Universal newborn screening (NBS) allows for early identification of affected infants so that treatment can begin before complications occur. Initial and long-term follow up of children with inherited hemoglobinopathies identified by NBS are essential to ensure the timely receipt of disease modifying interventions, education and care coordination. Indiana Sickle Cell Consortium (ISCC) The Indiana Hemophilia & Thrombosis Center (IHTC), the Martin Center Sickle Cell Initiative (MCSCI), the North Central Indiana Sickle Cell Initiative (NCISCI), and SCACURE Networks, Inc. (SCACURE) as well as other healthcare providers have committed to collaborate as the ISCC to conduct all hemoglobinopathy NBS follow up (disease and trait) on behalf of the Indiana State Department of Health (ISDH), and to enhance communication and collaboration with the ISDH regarding sickle cell programs and policy in Indiana. The ISCC is committed to increased awareness of SCD and educate emergency departments and primary care providers around the state to improve healthcare disparities. The ISCC’s goal is to be the voice of people living with SCD in Indiana as well as their families, friends, and healthcare providers. Let us honor the hundreds of Hoosiers living with SCD, the millions around the world, and the researchers and health care providers working to improve treatments and increase the number of curative therapies for SCD on World Sickle Cell Day 2017.