Results 61 to 70 of about 20,917 (253)

Hemoglobinopathies: slicing the Gordian knot of Plasmodium falciparum malaria pathogenesis. [PDF]

, 2013
Plasmodium falciparum malaria kills over 500,000 children every year and has been a scourge of humans for millennia. Owing to the co-evolution of humans and P.
Rick M Fairhurst, Fairhurst, Rick M., Steve M Taylor, Taylor, Steve M., Rick M. Fairhurst, Steve M. Taylor, Cerami, Carla, Carla Cerami, Cerami Carla, Taylor Steve M., Fairhurst Rick M.   +10 more
core   +1 more source

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +1 more source

Prevalence of Cardiovascular Complications in Individuals with Sickle Cell Anemia and Other Hemoglobinopathies: A Systematic Review

, 2022
Background Sickle cell anemia (SCA) is a hereditary disease whose cardiovascular complications are the main cause of death, the same being observed in other hemoglobinopathies.
Ana Marice Teixeira Ladeia (4701745), Marina Tejo Dantas (13275710), Andressa Lopes (13275713)   +2 more
core   +2 more sources

Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome: two case reports

Journal of Medical Case Reports, 2017
Background Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute ...
Fernando Barroso Duarte, Romélia Pinheiro Gonçalves Lemes, Talyta Ellen de Jesus dos Santos, Maritza Cavalcante Barbosa, João Paulo Leitão de Vasconcelos, Francisco Dário Rocha-Filho, Ilana Zalcberg, Diego Coutinho, Monalisa Feliciano Figueiredo, Luciana Barros Carlos, Paulo Roberto Leitão de Vasconcelos   +10 more
doaj   +1 more source

The New Hemoglobinopathies [PDF]

, 1970
The clinical explorations which have resulted from studies of mutant hemoglobin have allowed definition of a variety of syndromes whose manifestations require explanation in terms of the effects of molecular distortion on physiological processes.
Cooper, Robert M.
core  

Factors Contributing to Improved Bone Mineral Density in Patients With Transfusion‐Dependent Thalassemia

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Advances in therapy have extended the life expectancy of patients with thalassemia to near that of the general population; complications such as endocrine disorders and osteoporosis remain prevalent. This study aimed to identify endocrine complications, factors associated with endocrine complications, and changes in bone mineral density (BMD ...
Cheng‐Ying Hsu, Hui‐Pin Hsiao, Shyh‐Shin Chiou, Pei‐Chin Lin, Yu‐Mei Liao, Wan‐Yi Hsu, Teng‐Hao Wang, Shuo‐Yu Wang   +7 more
wiley   +1 more source

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance

International Journal of Neonatal Screening
Hemoglobinopathies are the commonest monogenic disorder worldwide, with approximately seven percent of the world population being carriers of hemoglobinopathies.
Ryan Jilek, Jennifer Marcy, Carol Johnson, Georgianne Younger, Amy Calhoun, Moon Ley Tung   +5 more
doaj   +1 more source

Hemoglobinopathies in Iran: An Updated Review

International Journal of Hematology-Oncology and Stem Cell Research, 2020
Hemoglobinopathies are the most common single gene disorders (monogenic disorders) in the world population.  Due to specific position of Iran and the presence of multi-ethnic groups in the country, there are many varieties in the molecular genetics and ...
Abolfazl Nasiri, Zohreh Rahimi, Asad Vaisi-Raygani   +2 more
doaj   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Transfusion Management in Pregnancies Complicated by Hemoglobinopathies: Evidence, Guidelines, and Clinical Challenges

Maternal-Fetal Medicine
. This review examined the evidence and guidelines on transfusion strategies, targets, and complications in pregnant women with hemoglobinopathies through a narrative review of literature published from 2010 to 2025, including randomized trials ...
Sophia Delicou, Aikaterini Xydaki, Maria Moraki, Aikaterini Poulaki, George Daskalakis, Yang Pan   +5 more
doaj   +1 more source