Results 301 to 310 of about 834,624 (377)

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

Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia. [PDF]

Mol Genet Metab Rep
Costa-Júnior DA, Souza Valente TN, Belisário AR, Carvalho GQ, Madeira M, Velloso-Rodrigues C.   +5 more
europepmc   +1 more source

Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin.

Current Opinion in Genetics and Development, 2015
D. E. Bauer, S. Orkin
semanticscholar   +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

Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies. [PDF]

Int J Mol Sci
Stephanou C, Menzel S, Philipsen S, Kountouris P, International Hemoglobinopathy Research Network (INHERENT).   +4 more
europepmc   +1 more source

Cell signaling pathways involved in drug-mediated fetal hemoglobin induction: Strategies to treat sickle cell disease

Experimental biology and medicine, 2015
B. Pace, Li Liu, Biaoru Li, Levi H C Makala   +3 more
semanticscholar   +1 more source

A new prediction diagnosis model of incomplete Kawasaki disease based on data mining with big data

Pediatric Discovery, EarlyView.
In this study, based on a medical big data information mining approach, we mined the independent risk factors for incomplete Kawasaki disease prediction by comparing incomplete Kawasaki disease with related febrile illnesses and constructed an auxiliary diagnostic model used to predict incomplete Kawasaki disease.
Zhen Yang, Bo Pan, Jia Liu, Haolin Wang, Jie Tian   +4 more
wiley   +1 more source

Zinc finger nuclease-mediated gene editing in hematopoietic stem cells results in reactivation of fetal hemoglobin in sickle cell disease. [PDF]

Sci Rep
Lessard S, Rimmelé P, Ling H, Moran K, Vieira B, Lin YD, Rajani GM, Hong V, Reik A, Boismenu R, Hsu B, Chen M, Cockroft BM, Uchida N, Tisdale J, Alavi A, Krishnamurti L, Abedi M, Galeon I, Reiner D, Wang L, Ramezi A, Rendo P, Walters MC, Levasseur D, Peters R, Harris T, Hicks A.   +27 more
europepmc   +1 more source

Middle cerebral artery peak systolic velocity to predict fetal hemoglobin levels in twin anemia–polycythemia sequence

Ultrasound in Obstetrics and Gynecology, 2015
F. Slaghekke, S. Pasman, M. Veujoz, J. Middeldorp, L. Lewi, R. Devlieger, R. Favre, E. Lopriore, D. Oepkes   +8 more
semanticscholar   +1 more source