Results 61 to 70 of about 607,752 (259)

Elevated Hemoglobin A2: A Molecular Revisited, and Implications to β‐Thalassemia Screening

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
In Thailand, the Hb A2 cut‐off value for β‐thalassemia carrier has been changed from 4.0% to 3.6% since 2015. We examined the molecular basis of β‐thalassemia in a large cohort of Thai subjects with this change. The molecular basis of β‐thalassemia was updated, and a change in the Hb A2 cut‐off can alter this spectrum.
Kritsada Singha   +8 more
wiley   +1 more source

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

Beta Thalassemia: An Overview of Epidemiology, Clinical Features, Diagnosis, and Management [PDF]

open access: yesپزشکی بالینی ابن سینا
Background and Objective: Thalassemia is an inherited blood disorder with an autosomal recessive inheritance pattern caused by the reduced or absent production of globin chains.
Ghasem Miri-Aliabad
doaj  

Dukungan Keluarga Dalam Merawat Anak Dengan Thalassemia Beta Mayor

open access: yesCitra Delima, 2019
ABSTRAK Pendahuluan: Thalassemia merupakan penyakit anemia hemolitik yang diturunkan secara genetik. Indonesia termasuk salah satu Negara yang memiliki penduduk pembawa gena thalassemia dengan prevalensi sebesar 3-8%. Anak thalassemia beta mayor harus
Rezka Nurvinanda   +3 more
doaj   +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

A Child Lost to Follow Up Carrying Beta Thalassemia Major: A Case Report

open access: yesJournal of Nepal Medical Association, 2020
Thalassemia is inherited autosomal recessive disorders characterized by reduced rate of hemoglobin synthesis due to a defect in alpha or beta globin chain synthesis. Maldives has a beta thalassemia prevalence rate of 16–18%.
Prakash Banjade, Jeetendra Bhandari
doaj   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

open access: yes
American Journal of Hematology, EarlyView.
Ferras Alashkar   +10 more
wiley   +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

Prevalence of Minor β-thalassemia Based on RBC Indices among Final Suspected Individuals in Premarital Screening Program Referred to Genetic Laboratories [PDF]

open access: yesInternational Journal of Hematology-Oncology and Stem Cell Research, 2010
"nAbstract "nIntroduction: The current study evaluated the value of red blood cell (RBC) indices and the corresponding cut- off points for β-thalassemia control programs in Iran.
Alireza Moafi   +5 more
doaj  

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