Results 41 to 50 of about 18,864 (254)

Cerebral Blood Transit in Sickle Cell Anemia

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Sickle cell anemia (SCA) patients upregulate cerebral blood flow to compensate for decreased arterial oxygen content. Such hyperemic conditions can manifest as venous hyperintense signal on arterial spin labeling (ASL) MRI, which may reflect faster capillary blood transit, altered oxygen extraction fraction (OEF), and infarct risk ...
Wesley T. Richerson, Megan A. Aumann, Alexander K. Song, Samantha Davis, Lauren Milner, Maria Garza, Dann Martin, L. Taylor Davis, Sumit Pruthi, Lori C. Jordan, Manus J. Donahue   +10 more
wiley   +1 more source

New opportunities for hemoglobinopathies screening in Nigeria

, 2021
New opportunities for hemoglobinopathies screening in ...
Andrusha, A.
core  

The genetics of blood disorders: hereditary hemoglobinopathies [PDF]

, 2020
Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population.
Fátima Sonati, Fernando Ferreira Costa, Maria De   +2 more
core  

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

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

Gene Therapy Approaches to Hemoglobinopathies

, 2017
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with a lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements ...
Cavazzana M., Fulvio Mavilio, Ferrari G., Marina Cavazzana, Mavilio F., Giuliana Ferrari   +5 more
core   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 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

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

Pharmacogenomics and therapeutics of hemoglobinopathies

, 2008
Individual genetic constitution is an important cause of variations in the response and tolerance to drug treatment. Single nucleotide polymorphisms (SNPs) in genes located within as well as outside the human beta-globin cluster have recently been shown ...
Patrinos, George, Grosveld, Frank
core   +1 more source