Results 61 to 70 of about 4,160 (239)

A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia

open access: yes, 2012
Background and Aims : Saudi Arabia falls in the high prevalent zone of α and β thalassemias. Early screening for the type of thalassemia is essential for further investigations and management.
Mehdi, Syed Riaz   +1 more
core   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

open access: yesNeuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji   +4 more
wiley   +1 more source

Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil

open access: yesRevista Brasileira de Hematologia e Hemoterapia, 2003
Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil.
Claudia R. Bonini-Domingos   +4 more
doaj   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij   +11 more
wiley   +1 more source

PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES

open access: yesMediterranean Journal of Hematology and Infectious Diseases, 2009
Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation.
Maria Cristina Rosatelli, Luisella Saba
doaj   +3 more sources

Rapid, Affordable and Efficient Screening of Multiple Blood Abnormalities Made Possible Using an Automated Tool for MALDI-ToF Spectrometry Analysis

open access: yesApplied Sciences, 2019
Screening programs for genetic and metabolic diseases such as haemoglobinopathies, thalassemias and diabetes are a worldwide problem that faces economic and technological limitations.
Ricardo J. Pais   +5 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde   +4 more
wiley   +1 more source

Case Report: Management of Thalassemic Mother for LSCS [PDF]

open access: yesThe Indian Anaesthetists' Forum, 2009
Thalassemias are genetically determined heterogeneous group of disorders with reduced production of globin. We report anaesthetic management of a case of ß-Thalassemia syndrome for LSCS.
Vaijayanti N. Gadre
doaj  

IRON METABOLISM IN THALASSEMIA AND SICKLE CELL DISEASE

open access: yesMediterranean Journal of Hematology and Infectious Diseases, 2009
There are two main mechanisms by which iron overload develops in thalassemias: increased iron absorption due to ineffective erythropoiesis and blood transfusions.
Raffaella Mariani   +3 more
doaj   +1 more source

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