Article
Public, Environmental & Occupational Health
Arielle G. Hernandez, Charles Kiyaga, Thad A. Howard, Isaac Ssewanyana, Grace Ndeezi, Jane R. Aceng, Russell E. Ware
Summary: This study in Uganda revealed a high national burden of sickle cell disease, with a particular focus on high-burden districts where targeted screening efforts were successful in identifying affected children. The majority of children were screened before 4 months, but a higher proportion of affected children in the sickle-specific cohort were tested between 5-9 months, coinciding with disease onset. Successful screening strategies in Uganda show promise for universal screening goals.
TROPICAL MEDICINE & INTERNATIONAL HEALTH
(2021)
Article
Public, Environmental & Occupational Health
Gerald Tegha, Hillary M. Topazian, Portia Kamthunzi, Thad Howard, Zondwayo Tembo, Tisungane Mvalo, Nelecy Chome, Wiza Kumwenda, Tawonga Mkochi, Arielle Hernandez, Kenneth Ataga, Irving F. Hoffman, Russell E. Ware
Summary: In Central Malawi, genetic blood disorders are common, and screening newborns can help identify these disorders early, improving clinical outcomes.
INTERNATIONAL JOURNAL OF PUBLIC HEALTH
(2021)
Article
Genetics & Heredity
Chinwe O. Okeke, Reuben I. Chianumba, Hezekiah Isa, Samuel Asala, Obiageli E. Nnodu
Summary: Using dried blood spots on HemoTypeSC for sickle cell disease testing is as accurate as the standard point-of-care test. The use of dried blood spots can improve the efficiency and cost-effectiveness of mass newborn screening for SCD.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Catherine I. Segbefia, Bamenla Goka, Jennifer Welbeck, Kokou Amegan-Aho, Diana Dwuma-Badu, Sudha Rao, Nihad Salifu, Samuel A. Oppong, Eric Odei, Kwaku Ohene-Frempong, Isaac Odame
Summary: Implementing SCD NBS program in Ghana's largest public hospital faced challenges such as shortage of nursing staff, screening supplies, and delays in receiving results. Strategies were incorporated to overcome these challenges and increase screening coverage to 83.7%.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Medicine, General & Internal
Lisa M. Shook, Deidra Haygood, Charles T. Quinn
Summary: Newborn screening for sickle cell disease requires genetic testing to ensure accurate diagnosis and treatment. Molecular genetic testing is crucial for distinguishing SCA from conditions like HbS/HPFH.
FRONTIERS IN MEDICINE
(2021)
Article
Hematology
Emmanuel Tebandite Kasai, Beatrice Gulbis, Justin Kadima Ntukamunda, Vincent Bours, Salomon Batina Agasa, Roland Marini Djang'eing'a, Francois Boemer, Gedeon Katenga Bosunga, Nestor Ngbonda Dauly, La Joie Sokoni Vutseme, Bosco Boso Mokili, Jean Pierre Alworong'a Opara
Summary: This study aimed to update the current incidence of neonatal sickle cell disease (SCD) in Kisangani. The results showed that the incidence of HbSS homozygosity at birth has doubled compared to a previous study in 2010, while the incidence of HbAS heterozygosity remained almost unchanged. Setting up a neonatal screening program and an awareness unit is necessary to accurately assess the need for care services.
Article
Hematology
Aldiouma Guindo, Zenab Cisse, Ibrahima Keita, Sophie Desmonde, Yeya dit Sadio Sarro, Boubacari A. Toure, Mohamed Ag Baraika, Oumarou Tessougue, Pierre Guindo, Moussa Coulibaly, Oumar Traore, Niagale Sylla, Mahamadou Diassana, Amaguire Saye, Valentina Picot, Emilie Lauressergues, Valeriane Leroy
Summary: This study assessed the acceptability and diagnostic performances of two rapid diagnostic tests for sickle cell disease (SCD) newborn screening in Mali. The results showed that both tests had reliable diagnostic performances to exclude SCD-free newborns and identify SCD carriers. The study suggests that this strategy could be implemented in large-scale newborn screening programs.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Hematology
Chibuzo J. J. Aguwa, Alicia D. D. Cannon, James F. F. Casella, Bruce K. K. Shapiro, Eboni I. I. Lance
Summary: Despite the availability of developmental screening guidelines, children with sickle cell disease (SCD) are not receiving regular and appropriate screening for neurodevelopmental disorders (NDDs). Many children are screened outside the recommended ages, and there is a lack of autism-specific screening.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Heavenlight Christopher, Adam Burns, Emmanuel Josephat, Julie Makani, Anna Schuh, Siana Nkya
Summary: This study evaluated an affordable DNA technology for the diagnosis of Sickle cell disease and other hemoglobinopathies in a resource-limited setting. The results showed that sequencing of the entire beta-hemoglobin locus using the Oxford Nanopore MinION platform was 100% concordant with the Sanger method, providing a fast, precise, accurate, and affordable diagnostic test.
Article
Multidisciplinary Sciences
Belhu Metaferia, Troy Cellmer, Emily B. Dunkelberger, Quan Li, Eric R. Henry, James Hofrichter, Dwayne Staton, Matthew M. Hsieh, Anna K. Conrey, John F. Tisdale, Arnab K. Chatterjee, Swee Lay Thein, William A. Eaton
Summary: Stem cell transplantation and genetic therapies offer potential cures for sickle cell disease, but they are not readily available due to high costs and limited medical facilities. This study focuses on finding an inexpensive oral drug to complement the current FDA-approved medication for inhibiting sickle-hemoglobin polymerization. The researchers conducted a phenotypic screen of over 12,000 compounds and identified 106 compounds that showed significant antisickling effects. These compounds have the potential to be developed into drugs for treating sickle cell disease.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Pediatrics
Siana Nkya, Belinda J. Njiro, Doreen Ngowi, David Solomon, Frida Kaywanger, Salama Nyangasa, Godfrey Ndoje, Emmanuela Marco, Mazoea Moses, Julie Makani
Summary: Sickle Cell Disease is a major health burden in sub-Saharan Africa, particularly in children. Establishing and following birth cohorts with and without SCD can provide valuable insights into the early manifestation of the disease and improve intervention management, ultimately reducing morbidity and mortality rates.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medicine, General & Internal
Pallavi Thaker, Roshan B. Colah, Jignisha Patel, Bhavesh Raicha, Abhishek Mistry, Vishal Mehta, Yazdi Italia, Shrey Desai, Kapilkumar Dave, Rajasubramaniam Shanmugam, Kanjaksha Ghosh, Malay B. Mukherjee
Summary: This study aimed to understand the clinical course of sickle cell disease (SCD) among children identified during newborn screening programs in Gujarat and Madhya Pradesh. The study found that SCD can lead to acute painful events, severe anemia, and fever with infections as major complications. Some babies had severe clinical presentation, while others had milder symptoms. Education, counseling, and prenatal diagnosis were important in improving the lives and treatment options for patients.
FRONTIERS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Igor Gomes Padilha, Francois Guilbert, Laurent Letourneau-Guillon, Stephanie Forte, Kristoff Nelson, Manon Belair, Jean Raymond, Denis Soulieres
Summary: Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) can be used to detect silent cerebral infarcts and arterial stenoses in patients with sickle cell disease (SCD). This study found a higher prevalence of intracranial aneurysms (ICANs) in asymptomatic adult SCD patients, particularly those with SS/S-beta 0 thalassemia. The clinical significance of preventive treatment for unruptured aneurysms remains controversial.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Oncology
Kok Hoe Chan, Syeda Hiba Rizvi, Wilfredo De Jesus-Rojas, James M. Stark, Ricardo A. Mosquera, Adriana Carolina Prada-Ruiz, Traci Gonzales, Deborah L. Brown, Neethu M. Menon, Trinh T. Nguyen, Cindy K. Jon, Aravind Yadav
Summary: PHT symptoms are not consistent with ECHO, NT-proBNP nor BNP findings in children with SCD. PHT prevalence based on TRV was low in children on hydroxyurea, therefore screening may not be warranted for this group.
PEDIATRIC BLOOD & CANCER
(2023)
Article
Ophthalmology
Ishrat Ahmed, Tejus Pradeep, Morton F. Goldberg, T. Y. Alvin Liu, Ahimsa Aradhya, Manuela P. Montana, Natalie Photiadis, Elizabeth Williams, Brantley Smith, Jing Tian, Sophie M. Lanzkron, Adrienne W. Scott
Summary: The feasibility and accuracy of nonmydriatic ultra-widefield fundus photographs for screening sickle cell retinopathy (SCR) in a hematology clinic setting were investigated in this study. The results showed that nonmydriatic photographs had high sensitivity and specificity in detecting SCR, making it a useful tool for identifying patients who require further examination and potential treatment.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)