The global burden of sickle cell disease (SCD) may be greater than previously thought, with mortality rates up to 11 times higher than earlier estimates, a recent analysis reported. Particularly vulnerable are people living in sub-Saharan Africa and children younger than age 5. Failures to properly diagnose sickle cell…

PerkinElmer has donated to an initiative that would extend newborn screening for sickle cell disease (SCD) in Ghana. The goal, which is expected to be achieved by 2030, is to boost screening from its current 4% to 50% of all babies born in the West African country. The…

A cohort of African health ministers, with support from the African regional office of the World Health Organization (WHO), has opened a campaign to improve sickle cell disease (SCD) awareness, prevention, and care in that continent, where most SCD patients reside. The effort seeks to curb the blood disorder’s…

Novartis is partnering with the American Society of Hematology (ASH) to roll out an app in six sub-Saharan African countries to track babies who receive a diagnosis of sickle cell disease (SCD) through newborn screening. The app is already in use in Ghana, where it works to collect…

The National Institutes of Health (NIH) has awarded a $10.5-million grant to support several research projects seeking to improve care for people with sickle cell disease (SCD). Research will focus on children and young adults, and on combating racism and other barriers to proper healthcare. SCD disproportionately affects Black…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Researchers in Alicante, Spain, established levels of normality for hemoglobin A in newborn screening by taking into account factors such as the babies being born prematurely and their mothers having immigrated from an area of the world where the prevalence of genetics mutations causing defects in the hemoglobin gene is high.