Results 51 to 60 of about 20,435 (244)
Basophilic Stippling Unmasks Pyrimidine 5′‐Nucleotidase Deficiency in a G6PD‐Deficient Patient
American Journal of Hematology, EarlyView.
Victor Bobée +4 more
wiley +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 +6 more
wiley +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. +5 more
core +1 more source
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 +2 more
core
ANZ Journal of Surgery, EarlyView.Splenectomy is a safe and effective treatment option in selected patients with haematological disease, despite declining referrals over the last 27 years in the era of targeted therapies. Outcomes are favourable when performed laparoscopically and long‐term follow‐up demonstrates sustained haematologic benefit in surviving patients.
Salil Dutt Barrett +9 more
wiley +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
HbA2 measurements in β-thalassemia and in other conditions
Thalassemia Reports, 2014 Quite a few papers have been written on the significance of elevated hemoglobin (Hb) A2 as a parameter for the diagnosis of β-thalassemia trait, on the cutoff values to be used in diagnostics and on the significance and effects of factors reducing or ...
Giovanni Ivaldi +3 more
doaj +1 more source
[Hemoglobinopathies in Japan].
[Rinsho ketsueki] The Japanese journal of clinical hematology, 1989 One hundred and thirty one different hemoglobin (Hb) variants and 134 families with thalassemia syndrome were reported during 30 years search for hemoglobinopathy in Japan. Studies on their molecular pathology and gene abnormalities have elucidated the effects of base substitution in the genomic DNA.
openaire +2 more sources
British Journal of Haematology, EarlyView.Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi +3 more
wiley +1 more source
Hemoglobinopathy SD presenting as Hemoglobinopathy SS
Medicina (Ribeirão Preto), 2017 This case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite.
Sonia Maria Lissa +4 more
openaire +3 more sources