Results 81 to 90 of about 779,152 (196)

Cerebral Blood Transit in Sickle Cell Anemia

open access: yesJournal 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   +10 more
wiley   +1 more source

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities

open access: yesAnemia
Beta-thalassemia exhibits a broad phenotypic range influenced by the severity of HBB mutation and various genetic modifiers. One of the most essential modifiers is the coinheritance of α-globin gene mutation.
Sethapong Lertsakulbunlue   +3 more
doaj   +1 more source

Screening results and analysis on genotype of thalassemia in 108 140 anemia patients in Chongqing

open access: yesDi-san junyi daxue xuebao, 2020
Objective To investigate the genotypes and distribution characteristics of thalassemia in Chongqing. Methods A total of 108 140 peripheral blood samples were harvested from 36 districts and counties in Chongqing during January 2018 and November 2019 ...
YANG Yuan   +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

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

Diagnosis of thalassemia carriers commonly found in Northern Thailand via a combination of MCV or MCH and PCR-based methods

open access: yesJournal of Associated Medical Sciences, 2013
Background: Conventional diagnostic strategy for thalassemia carriers is time-consuming and requires many types of laboratory tests. Objective : To demonstrate the possibility of a combination of MCV or MCH and a PCR-based technique in identifying α ...
Wibhasiri Srisuwan, Thanusak Tatu
doaj  

Lymphocyte subsets in untreated thalassemia patients: differences by genotype and age

open access: yesFrontiers in Immunology
BackgroundThe Lymphocyte subsets in treatment-naïve patients and their variations among different genetic subtypes and age groups remain poorly characterized.MethodsTo characterize the distribution of lymphocyte subsets in treatment-naïve thalassemia ...
Renbin Zhao   +32 more
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Diagnosis of α-thalassemia using droplet digital PCR [PDF]

open access: yes, 2019
Most α-thalassemia occurs due to a large deletion in the α-globin gene. Common α-thalassemia with known mutations, such as Southeast Asian (SEA) type is readily diagnosed by Gap-PCR.
Mori, Kentaro   +9 more
core  

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