Sickle cell disease is a term for hemoglobin disorders characterized by the predominant production of hemoglobin S. Any sign of illness in an infant with sickling disease is a potential medical emergency. Acute and chronic tissue injury can occur when sickled cells cause vascular occlusion. Newborn Screening and Definitive Diagnosis: Newborn screening for sickle cell disease is performed by high performance liquid chromatography (HPLC) testing to determine the presence of abnormal hemoglobins (Hgb) in whole blood. All abnormal newborn screening test results indicating a sickle cell disorder require appropriate confirmatory blood tests, sometimes including testing of parents and siblings for actual diagnosis. Referral to a pediatric hematologist for evaluation and diagnostic testing is recommended within the first month of life and should not be delayed until the infant is older. Hemoglobin electrophoresis including both cellulose acetate and citrate agars (one is not sufficient), isoelectric focusing and high performance liquid chromatography are considered proven, reliable and accurate methods for defining an infant’s hemoglobin phenotype.     Abstract source

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This issue will provide a current update on diagnosis, treatment, and management of children with benign hematological disorders. Dr. Callaghan has put together a comprehensive issue with clinical reviews written by top experts in the field. Articles are devoted to the following topics: Hemophilia; Sickle cell acute chest; Sickle cell drugs; Sickle cell gene therapy; Sickle cell menses and pain; Pediatric DVT; Atypical HUS; von Willebrand Disease; Female bleeding; Functional platelet disorders; Hemolytic anemia; Advocacy in hematology; ITP; and Acquired aplastic anemia. Readers will come away with the current clinical information they need to improve clinical outcomes. Abstract source

Background: Vaso-occlusive pain crises account for the majority of hospitalizations in patients with sickle cell disease (SCD), and opioids are the mainstay of chronic pain control in SCD. The study sought to: i) examine temporal trends in hospitalization rates and in-hospital mortality rates among adults with SCD ii) compare in-hospital mortality rates for SCD with the rates of opioid prescription-related deaths in the non-SCD general population since the onset of the US opioid epidemic. Method: Data was obtained from the National Inpatient Sample from 1998 through 2013. Hospitalizations for patients with sickle cell disease were identified using discharge diagnoses. Hospitalization and in-hospital mortality rates and trends were examined for the entire sample of SCD patients, by the following age groups: 0-17 years, 18-44 years, 45-64 years, and >=65 years as well as by the U.S Census Bureau regions. Annual mid-year population figures provided by the US Census Bureau were used as the reference population for each year. Result: There were 1,755,220 hospitalizations among SCD patients in the US from 1998 to 2013. Hospitalization rates for SCD patients initially declined annually by 9.9% from 39/100,000 persons in 1998 to 27/100,000 persons in 2002, but no significant temporal trends were noted from 2002 to 2013. However, among young adults with SCD (18-44 years), there was a significant annual increase in hospitalization rates by 3.8% from 43/100,000 persons in 2002 to 71/100,000 persons in 2013. Elderly SCD patients (>=65 years) also had a significant annual increase in hospitalization rates by 6.5% from 2.7/100,000 persons in 1998 to 5.4/100,000 persons in 2013. The only region with a significant increase in SCD hospitalization rate was the South with an annual increase of 3.5% from 2001 through 2011. There was no significant increase in-hospital SCD mortality, in contrast to the 350% increase in non-SCD opioid prescription-related death rates in the US from 1999 through 2013. Conclusion: Hospitalization rates are rising among most age-groups of adults with SCD. The reasons for this finding are unclear but the rising rates may reflect the fragmentation of care for SCD in adults as well as age-related increases in pain-related comorbidities and SCD complications as SCD patients live longer. However, there has been no associated increase in-hospital SCD mortality, supporting extant data which suggest that the rate of opioid-related deaths in SCD is low, and the use of opioids for pain control may be considered relatively safe in the SCD population. Abstract source

Most babies born in the United States are healthy, but there are some babies who may seem fine at birth that have a serious unseen disorder. If detected early, some of the problems, such as illness, developmental delay, poor growth or death can be prevented. After your baby is at least 24 hours old, the hospital will collect a small sample of blood from your baby’s heel. If your baby is born at home, it is important to make arrangements to have the screening done with your baby’s health care provider after 24 hours of age.   Abstract source

Wake Forest School of Medicine has served the needs of persons with sickle cell disease for many decades. In 2004, the Wake Forest University Sickle Cell Center of Excellence was established, offering the only Comprehensive Sickle Cell Program in the region which continues to the present day. In 2011, David M. Cline, MD was named site principal investigator for grant funded by the Agency for Healthcare Research and Quality to improve care in emergency departments for adults with sickle cell disease at Duke and at Wake Forest Baptist Hospital in Winston Salem North Carolina. Dr. Cline and his team works closely with the sickle cell center hematologists, social workers and educators to provide seamless care in the emergency department, in-patient, and outpatient setting. Wake Forest Baptist Medical Center is ranked by U.S. News & World Report among the nation’s best hospitals in seven areas: Cancer, Gastroenterology, Geriatrics, Kidney Disorders, Neurology and Neurosurgery, Pulmonology and Urology. It is ranked as high-performing in five other areas: Cardiology and Heart Surgery, Diabetes and Endocrinology, Ear, Nose and Throat, Gynecology and Orthopaedics. It also was ranked by U.S. News & World Report as the No. 2 hospital in North Carolina and as the top hospital in the Piedmont regional rankings. Official website

Dr. Simone Eastman Uwan was born in Guyana South America. She is a medical doctor by profession. She completed her education at Barnard College, Columbia University and attended Stanford University School of Medicine (2001), continuing afterwards at an affiliated Family Practice residency. Her career over the years focused predominantly on caring for the underserved, working mostly in community clinics. Dr. Simone Uwan is a sickle cell patient and due to Sickle Cell disease, she retired from her medical practice at an early age. She aims to educate and motivate Sickle Cell warriors about the disease, chronic pain associated with it and serious health challenges a patient might face. She says, “my goal as a doctor and patient with Sickle Cell disease is to help us improve and maintain our overall health and to empower us all with a multi-dimensional wellness plan”. Dr. Uwan has written a book named “Bedtime Stories with Doctor Simone Uwan” to share some personalized education on sickle cell disease to the patients. Online profile

Amy E. Sobota is a pediatric hematologist and medical oncologist at Boston Medical Center. She did her graduation twice from Radcliffe College and Harvard College. She completed her medical education from University of Wisconsin, Madison in 2002. She also gained her residencies from Children's National Medical Center, Washington DC in 2005 and Chief Resident of Pediatrics, Children's National Medical Center, Washington DC in 2006. She has also received a fellowship in Pediatric Hematology and Oncology from Children's Hospital, Dana Farber Cancer Institute, Boston MA in 2009, followed by another fellowship in Pediatric Health Services from Children's Hospital, Harvard School of Public Health, Boston in 2010. Dr. Sobota has also done Master’s in Public Health (MPH) from Harvard School of Public Health. She is also serving as the Assistant Professor of pediatrics at Boston University School of Medicine. Dr. Amy Sobota’s interests lie in sickle cell disease, iron deficiency, menstrual disorders and general pediatric hematology. Her research interest lies in quality of care in sickle cell disease, transition from pediatric to adult, etc.   Representative Publications: Young Adult Perspectives on a Successful Transition from Pediatric to Adult Care in Sickle Cell Disease Developing a problem-solving intervention to improve self-management and transition readiness in adolescents with sickle cell disease A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy Development of quality indicators for transition from pediatric to adult care in sickle cell disease: A modified Delphi survey of adult providers   Online profile

Background: Despite universal screening that detects sickle cell trait (SCT) in infancy, only 16% of Americans with SCT know their status. To increase SCT status awareness, effective education for patients and their families is needed. The objective of this study was to assess caregivers' SCT knowledge before and after an in-person SCT education session. Methods: A trained educator provides in-person SCT education to caregivers of referred infants with SCT at Nationwide Children's Hospital. From August 2015 to July 2016, primarily English-speaking caregivers of infants with hemoglobin S-trait were recruited and completed a health literacy assessment and a SCT knowledge assessment (SCTKA) before and after receiving education. Caregivers repeated the SCTKA again after >=6 months, if they could be contacted. Results: Thirty-eight (38.1%) percent of 113 caregivers had high SCTKA scores (>=75%) before education but 90.3% achieved high scores after education. Caregivers with low SCTKA scores after education had significantly lower health literacy (P = 0.029) and baseline SCTKA scores (P = 0.003) compared to those with higher scores after education. At >=6 months, caregivers' scores were significantly higher (P = 0.014) than baseline, but only 73.3% scored >=75%. Conclusion: Results suggest that caregivers' baseline SCT knowledge is low, improves with in-person education but may decline with time. Caregivers who do not achieve high SCT knowledge after education had lower health literacy and baseline knowledge. Future studies should determine if adapting in-person education to caregivers' health literacy and knowledge levels results in high and sustained SCT knowledge among all caregivers and more individuals who know their SCT status. Abstract source Full text