Results 181 to 190 of about 115,549 (302)

Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia. [PDF]

Blood Res
Abdul Hamid FS, Md Noor S, Lai MI, Mohd Bahari SK, Esa E, Mohd Sahid EN, Mohd Yasin N, Mat Yusoff Y.   +7 more
europepmc   +1 more source

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

Total ginsenosides enhance γ-globin expression and fetal hemoglobin production in β-thalassemia models. [PDF]

Front Pharmacol
Cai D, Chan Y, He G, Kong Y, Cai A, Guo Y, Zhu B.   +6 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal 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, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Fetal Cardiovascular Profile Score (CVPs) in Fetal Anemia, Using Fetal Hemoglobin Bart's Disease at Mid-Pregnancy as a Study Model. [PDF]

Diagnostics (Basel)
Hantrakun P, Srisupundit K, Tongsong T.
europepmc   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Intrauterine Transfusions in Fetuses Affected by Parvovirus B19: Complications, Challenges and Outcomes

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study evaluates the procedural characteristics, complications, and outcomes of intrauterine transfusion (IUT) for fetal anemia caused by parvovirus B19 infection during the 2023–2024 epidemic in Northwestern Europe. Method This multicenter observational study included all fetuses undergoing IUT for proven parvovirus B19‐induced ...
Banu Özbakir, Emma Van den Eede, Lone N. Nørgaard, Roland Devlieger, Karin Sundberg, Monique C. Haak, Femke Slaghekke   +6 more
wiley   +1 more source

Selective AMPKβ1 activation induces fetal hemoglobin in human erythroid cells and sickle cell mice via the noncanonical NRF2 pathway. [PDF]

Sci Adv
Hara Y, Lemgart VT, Lessard S, Mercadante CJ, Ribeil JA, Hicks A, Rimmele P, Light DR.   +7 more
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Fetal Hemoglobin Decrease During Voxelotor Treatment. [PDF]

Eur J Haematol
De Luna G, Habibi A, Moutereau S, Martino S, Alhamrouni J, Morel C, Pelinski Y, Zaouali Y, Galactéros F, Bartolucci P.   +9 more
europepmc   +1 more source