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Autosomal recessive diseases

Sickle cell disease and maternity care: A qualitative synthesis of women’s and health providers experiences

Kenneth Finlayson, Gill Moncrieff, Cath Harris, Soo Downe

published 13 Jul 2026

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Barriers and facilitators to healthcare utilization amongst people living with sickle cell disease in the United States: A scoping review

Christina Ruan, Joyce Gyamfi, Nana Osei-Tutu, Shreya Meda, Lydia Samuels, Nousheen Inayat, Sukruthi Thunga, Elizabeth Noble, Dorice L. Viera, Deborah Adenikinju, Charmaine Royal, Angela Odoms-Young, Prince Michael Amegbor, Emmanuel Peprah

published 06 Jul 2026

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Predicting elevated transcranial doppler velocity among patients with sickle cell anemia in Uganda: A cross-sectional study

Doreen Nayiga, David Mukunya, Simon Odoch, Faith Oguttu, Ian Munabi, Milton W. Musaba, Charles Kimbugwe, Brian Tonny Makoko, Jonathan Babuya, Joshua Mugabi, Alain Nyalihama, Martin Chebet, Lisa Rynn, Samuel Kizito, Vincent Ssentumbwe, Sarah Kiguli, Peter Olupot Olupot

published 23 Jun 2026

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Diagnostic performance of discriminant formulas and machine learning models for detecting β-thalassemia trait in Bangladesh

Rumana Mahtarin, Kasrina Azad, Rakib Bin Mahbub Talukder, Rynak Rahmat, Suzana Chowdhury Nitu, Arif Mahmud Howlader, Mohabbat Hossain, Mst. Sharmin Aktar Mukta, Mohammad Tanbir Habib, Abu Bakar Siddik, Nishat Sultana, Zannat Kawser, Umme Kulsum, Faisal Zainal Abedin, Nusrat Sultana, Md. Ahashan Habib, A. K. M. Ekramul Hossain, Farjana Akther Noor, Ahmad Zubair Mahdi, Muhammad Asaduzzaman, Emran Kabir Chowdhury, Md Rofiqur Rahman, Firdausi Qadri, Mst. Noorjahan Begum, A. H. M. Nurun Nabi

published 16 Jun 2026

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Echocardiographic characterization and markers of cardiovascular risk in adults with sickle cell disease in a Colombian tertiary referral centre: A cross-sectional study

Martin E. Arrieta-Mendoza, Juan R. Betancourt, Sebastián Ayala-Zapata, Stephany Barbosa-Balaguera, Christian D. Messu-Llanos, Juan P. Rosales-Melo, Darío F. Andrade-Hoyos, Álvaro Herrera-Escandón, Oswaldo E. Aguilar-Molina

published 16 Jun 2026

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Trends in the burden of sickle cell disorders in Sierra Leone, 1990–2023: An analysis of Global Burden of Disease Study 2023 estimates

Monalisa M. J. Faulkner, Fatima Jalloh, Foray Mohamed Foray, Sahr L. Gborie, Mohamed B. Jalloh

published 04 Jun 2026

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School absenteeism among children and adolescents aged 6–19 years with sickle cell disease in Uganda: A comparative cross-sectional study

Juliane Peninah Nattimba, Sabrina Bakeera-Kitaka, Joseph Rujumba, Ruth Namazzi, Ivan Segawa, Kizza Lubega, Alphonse Taban, Edison Mworozi, Phillip Kasirye, Deogratias Munube, Grace Ndeezi, Sarah Kiguli, Thereza Piloya

published 29 May 2026

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Ontogenetic shifts in morphology and ecology of eastern Pacific white sharks revealed by computer vision

Alexandra E. DiGiacomo, Samantha Andrzejaczek, Barbara A. Block

published 20 May 2026

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Impact of the COVID-19 pandemic on sex-related disparities in cystic fibrosis healthcare utilization and outcomes: A population study

Jason Weatherald, Chuan Wen, Heather Sharpe, Winnie M. Leung, Paul E. Ronksley, Jeffrey A. Bakal, Michael K. Stickland, Douglas P. Gross, Grace Y. Lam

published 06 May 2026

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Persistent proteinuria among a cohort of Nigerian children with sickle cell anaemia

Angela Esohe Adeoti-Lawani, Gabriel Obiorah Ezeh, Elizabeth Eberechi Oyenusi, Chris Imokhuede Esezobor

published 30 Apr 2026

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Determinants of clinical severity in children with sickle cell disease and confirmed asthma

Gabriel Bafunyembaka, Mathieu Nacher, Ariel Makembi, Nadia Nathan, Narcisse Elenga

published 28 Apr 2026

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Common hemoglobin variants affecting the diagnosis of β-thalassemia: A large cohort data at a single center

Kritsada Singha, Hataichanok Srivorakun, Supawadee Yamsri, Attawut Chaibunruang, Anupong Pansuwan, Yossombat Changtrakul, Kanokwan Sanchisuriya, Goonnapa Fucharoen, Supan Fucharoen

published 17 Apr 2026

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Toxoplasma gondii seropositivity among patients with sickle cell disease: Prevalence and association with blood transfusion history

Verner N. Orish, Renosten E. Tetteh, David Adzah, Chinecherem A. Ndiokwelu, Emmanuel A. Allotey, Evans A. Yeboah, Sylvester Y. Lokpo, Kenneth Ablordey, Duneeh R. Vikpebah, Ekene K. Nwaefuna, Precious K. Kwadzokpui, Noble D. Dika, Elom Y. Dzefi, Kokou H. Amegan-Aho, Aninagyei Enoch, Senyo Tagboto

published 03 Apr 2026

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