Review
Hematology
S. Chakravorty, E. Drasar, B. Kaya, R. Kesse-Adu, M. Velangi, J. Wright, J. Howard
Summary: This study evaluated the impact of peer reviews on healthcare quality improvement for people with haemoglobinopathy in the UK. The findings showed that haemoglobinopathy centres significantly improved their compliance to quality standards during the initial peer review programs, but not in the final program. Haemoglobinopathy departments were also less successful in addressing critical peer review recommendations compared to other disease groups.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Hematology
Camille Boisson, Celine Renoux, Elie Nader, Alexandra Gauthier, Solene Poutrel, Minke Rab, Romain Fort, Yves Bertrand, Emeric Stauffer, Giovanna Cannas, Kamila Kebaili, Emilie Virot, Arnaud Hot, Vivien Sheehan, Eduard van Beers, Richard van Wijk, Philippe Joly, Philippe Connes
Summary: The study demonstrated the impact of alpha-thalassaemia on oxygen gradient ektacytometry in sickle cell anaemia, showing that the group with two alpha-genes had the lowest red blood cell deformability at low oxygen partial pressure and the earliest onset of sickling compared to other groups.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
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
Biochemical Research Methods
Liberata A. Mwita, William F. Mawalla, Frank R. Mtiiye, Daniel Kandonga, Jill Kent, Julie Makani, Raphael Z. Sangeda
Summary: Sickle cell disease (SCD) is a prevalent genetic disorder in Africa. Current SCD research focuses on analyzing and comparing phenotypic variations and disease outcomes with genotypic signatures, leading to the accumulation of molecular and genetic data. However, the ability to translate these genetic findings into clinical practice, especially in developing regions, is still limited. Establishing bioinformatics infrastructure and capacity in these regions is crucial for bridging this gap. This paper illustrates how the Sickle Cell Programme (SCP) at the Muhimbili University of Health and Allied Sciences (MUHAS) in Tanzania integrated bioinformatics infrastructure and clinical research while providing daily clinical care for SCD patients.
PLOS COMPUTATIONAL BIOLOGY
(2023)
Article
Hematology
Ludovica Aliberti, Irene Gagliardi, Maria Rita Gamberini, Andrea Ziggiotto, Martina Verrienti, Aldo Carnevale, Marta Bondanelli, Maria Chiara Zatelli, Maria Rosaria Ambrosio
Summary: This study evaluated the prevalence, risk factors, and clinical consequences of hypercalciuria in adult patients with beta-thalassemia major. The results showed that hypercalciuria is common in adequately treated thalassemia patients, especially in those using deferasirox. A significant proportion of hypercalciuric patients developed kidney stones.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Public, Environmental & Occupational Health
Ashima Singh, Marci K. Sontag, Mei Zhou, Mahua Dasgupta, Tessa Crume, Morgan McLemore, Najibah Galadanci, Eldrida Randall, Nicole Steiner, Amanda M. Brandow, Kathryn Koch, Joshua J. Field, Kathryn Hassell, Angela B. Snyder, Julie Kanter
Summary: Sickle cell disease (SCD) is a genetic condition, but there is currently no universal clinical registry to estimate its prevalence. The Sickle Cell Data Collection (SCDC) program aims to identify individuals with SCD using administrative claims. This study evaluates the ability of the SCDC administrative claims case definition to accurately identify adults with SCD.
JMIR PUBLIC HEALTH AND SURVEILLANCE
(2023)
Review
Medicine, General & Internal
Norita Hussein, Lidewij Henneman, Joe Kai, Nadeem Qureshi
Summary: Preconception genetic risk assessment is important in identifying couples at risk of genetic diseases and helping them make informed reproductive decisions before pregnancy. However, there is currently a lack of randomized controlled trials on preconception genetic risk assessment for thalassaemia, sickle cell disease, cystic fibrosis, and Tay-Sachs disease.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2021)
Review
Hematology
Wei-da Wang, Fang Hu, Dun-hua Zhou, Robert Peter Gale, Yong-rong Lai, Hong-xia Yao, Chunfu Li, Bing-yi Wu, Zhu Chen, Jian-pei Fang, Sai-juan Chen, Yang Liang
Summary: Due to China's economic growth and advancements in medical technology over the past 20 years, there are various methods available for noninvasive prenatal testing and treatment of thalassemia major. However, regional disparities in economic development and access to medical resources require further innovations to alleviate the medical, financial, and psychological burdens of thalassemia patients and their families.
Article
Hematology
Samir K. Ballas
Summary: Research indicates that only a small number of patients with sickle cell disease died due to opioid overdose. The leading causes of death among these patients include circulatory, infection, and respiratory issues, with opioids not being one of the primary reasons.
ANNALS OF HEMATOLOGY
(2021)
Article
Immunology
Yaritza Inostroza-Nieves, Alicia Rivera, Jose R. Romero
Summary: A study found that Major Histocompatibility Complex (MHC) molecules play a role in Sickle Cell Disease (SCD) pathophysiology. Endothelial cells express MHC molecules after exposure to cytokines. SCD is characterized by vascular endothelial cell activation, oxidative stress, sickle cell adhesion, and excess levels of endothelin-1 (ET-1). The study suggests that ET-1 is a novel regulator of MHC class II molecules and ET-1 receptor blockade may be a promising therapeutic approach for regulating immune and vascular responses in SCD.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Hematology
Marina Garcia-Morin, Eduardo J. Bardon-Cancho, Cristina Belendez, Elena Dulin, Paula Blanco-Soto, Carolina Puertas-Lopez, Mar Prieto-Medina, Aurea Cervera-Bravo, Lucia Llorente-Otones, Vanesa Perez-Alonso, Sonsoles San-Roman, Cruz Vecilla-Rivelles, Montserrat Lopez-Rubio, Elena Sebastian, Jose M. Bellon, Elena Cela
Summary: This study aims to describe the morbidity, mortality, and stroke prevention program in SCD newborns screened in Madrid. The results show that the evolution of the Madrid SCD cohort is similar to other developed countries, providing valuable clinical information.
ANNALS OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Giorgia Mandrile, Susanna Barella, Antonino Giambona, Antonia Gigante, Michela Grosso, Silverio Perrotta, Saverio Scianguetta, Gian Luca Forni
Summary: The purpose of this best practice paper is to review the current recommendations for the identification and prenatal diagnosis of hemoglobinopathies and provide corresponding recommendations.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Clinical Neurology
Chinedu Maduakor, Vafa Alakbarzade, Yezen Sammaraiee, Angeliki Vakrinou, Alina Corobana, Julia Sikorska, Elizabeth Rhodes, Anthony C. Pereira
Summary: This study focused on neurological complications in adults with sickle cell disease, finding that cerebrovascular disease is the most common complication. Ischemic stroke is more common in patients with HbSS genotype, and those who suffered a stroke also had a higher proportion of intracranial vasculopathy and cognitive impairment.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, General & Internal
Steve M. Taylor, Sarah Korwa, Angie Wu, Cynthia L. Green, Betsy Freedman, Sheila Clapp, Joseph Kipkoech Kirui, Wendy P. O'Meara, Festus M. Njuguna
Summary: In this study, monthly use of dihydroartemisinin-piperaquine (DP) was associated with reduced dactylitis and Plasmodium falciparum parasitization in Kenyan children with sickle cell anemia (SCA). However, monthly sulfadoxine/pyrimethamine-amodiaquine (SP-AQ) did not reduce clinical malaria. Further studies are needed in higher malaria transmission settings.
Editorial Material
Hematology
Lorenza Torti
Summary: In the past, pregnancy for thalassaemia patients was highly risky and discouraged. However, recent research shows that thalassaemic women can now have successful pregnancies with no significant difference in maternal outcomes compared to non-thalassaemic women.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)