Results 201 to 210 of about 114,148 (300)

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

Prenatal 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, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Disrupting ZBTB7A or BCL11A binding sites reactivates fetal hemoglobin in erythroblasts from healthy and β⁰-thalassemia/HbE individuals. [PDF]

Sci Rep
Wongborisuth C, Innachai P, Saisawang C, Tubsuwan A, Jearawiriyapaisarn N, Kaewprommal P, Piriyapongsa J, Chiangjong W, Anurathapan U, Songdej D, Tangprasittipap A, Hongeng S.   +11 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

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

The histone deacetylase inhibitor CT-101 flips the switch to fetal hemoglobin expression in sickle cell disease mice. [PDF]

PLoS One
Takezaki M, Li B, Xu H, Patel N, Lucas R, Cerbone RE, Koti S, Hendrick CL, Junker LH, Pace BS.   +9 more
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

Preparation and Utilization of a Highly Discriminative Absorbent Imprinted with Fetal Hemoglobin. [PDF]

Polymers (Basel)
Zhang K, Zhou T, Dicko C, Ye L, Bülow L.   +4 more
europepmc   +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

A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts. [PDF]

Hum Mol Genet
Ilboudo Y, Brosseau N, Lo KS, Belhaj H, Moutereau S, Marshall K, Reid M, Kutlar A, Ashley-Koch AE, Telen MJ, Joly P, Galactéros F, Bartolucci P, Lettre G.   +13 more
europepmc   +1 more source

GENOME WIDE DNA METHYLATION PROFILING IS PREDICTIVE OF OUTCOME IN JUVENILE MYELOMONOCYTIC LEUKEMIA [PDF]

, 2017
Costello, J, Flotho, C, Geng, H, Lipka, D, Loh, M, Mazor, T, Olshen, A, Plass, C, Stieglitz, E   +8 more
core   +1 more source