Results 31 to 40 of about 9,800 (200)

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Hemoglobin Variant (Hemoglobin Aalborg) Mimicking Interstitial Pulmonary Disease

Pulmonary Medicine, 2014
Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances.
Vasiliki Panou, Peter-Diedrich Mathias Jensen, Jan Freddy Pedersen, Lars Pilegaard Thomsen, Ulla Møller Weinreich   +4 more
doaj   +1 more source

Iron deficiency with and without anemia in pregnancy: A scoping review of prevalence and perinatal impact

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Background The prevalence of iron deficiency with anemia and iron deficiency without anemia (IDWA) during pregnancy have not been summarized, and evidence of the direct association of IDWA with adverse perinatal outcomes (APO) are unknown.
Lucky O. Lawani, David M. Naimark, Joel G. Ray, Jessica Widdifield, Paul Eze, Chidumebi J. Idemili, Nadine Shehata   +6 more
wiley   +1 more source

The Effect of Resveratrol on Gamma Globin Gene Expression in Patients with Beta Thalassemia: The Role of Adaptation to Cellular Stress

Thalassemia Reports
HbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers ...
Hossein Jalali, Mohammad Reza Mahdavi, Mehrnoush Kosaryan, Ahmad Najafi, Aily Aliasgharian, Ebrahim Salehifar   +5 more
doaj   +1 more source

Combination iron chelation therapy with deferiprone and deferasirox in iron-overloaded patients with transfusiondependent β-thalassemia major

Clinics and Practice, 2017
There are few papers on the combination therapy of deferiprone (DFP) and deferasirox (DFX) in iron-overloaded patients with transfusion-dependent β-thalassemia major (β-TM). A total of 6 patients with β-TM (5 males and 1 female) with a mean age of 23.8±5.
Hossein Karami, Mehrnoush Kosaryan, Arash Hadian Amree, Hadi Darvishi-Khezri, Masoomeh Mousavi   +4 more
doaj   +1 more source

The impact of low‐dose aspirin on hemoglobin levels in pregnancy: A secondary analysis of a randomized controlled trial for prevention of hypertensive disorders of pregnancy

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objectives This study evaluates the association of low‐dose aspirin (LDA) with hemoglobin (Hb) levels during pregnancy and explores how changes in Hb levels relate to hypertensive disorders of pregnancy (HDP). Methods This secondary analysis of a randomized controlled trial comprised 249 pregnant women recruited from a regional hospital in ...
N. M. Ngcobo, V. Dorsamy, C. Bagwandeen, P. Z. Mkhize, J. Moodley   +4 more
wiley   +1 more source

Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography

Journal of Pathology of Nepal, 2015
Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies.
R Jha
doaj   +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

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals

Medicine Science, 2020
Thalassemia is the most frequently seen monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α-or β-globin gene clusters.
Emrah Yerlikaya, Hasan Karagecili, Mustafa Oguzhan Kaya   +2 more
doaj   +1 more source