Results 121 to 130 of about 38,246 (331)

Spectrum of hemoglobin variants in the population of northern region of West Bengal: An ethnogenetic proposition

open access: yesJournal of Family Medicine and Primary Care, 2014
Context: The birth of transfusion-dependent states of hemoglobinopathies including thalassemias is preventable by population screening and genetic counseling.
Bidyut Krishna Goswami   +5 more
doaj   +1 more source

What are appropriate screening tests for infants and children? [PDF]

open access: yes, 2006
There is adequate evidence for screening neonates for hemoglobinopathies, congenital hypothyroidism, phenylketonuria (strength of recommendation [SOR]: A), and cystic fibrosis (SOR: B).
Biagioli, Frances E.   +2 more
core  

Matrix‐assisted Laser Desorption Ionization Mass Spectrometry for Detection of α/β‐Chain Changes From Human Hemoglobin: An Exploratory Study

open access: yesAnalytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT In this work, we developed a matrix‐assisted laser desorption ionization time‐of‐flight mass spectrometry (MALDI‐TOF‐MS) method to directly analyze human whole blood samples. 1.0 µL of whole blood samples and 1.0 µL of optimized organic matrix were directly loaded onto the sample plates for MALDI‐TOF‐MS detection.
Dan‐ping Liu   +11 more
wiley   +1 more source

Effects of Daily Zinc, Daily Multiple Micronutrient Powder, or Therapeutic Zinc Supplementation for Diarrhea Prevention on Physical Growth, Anemia, and Micronutrient Status in Rural Laotian Children: A Randomized Controlled Trial. [PDF]

open access: yes, 2019
ObjectivesTo evaluate the optimal zinc supplementation strategy for improving growth and hematologic and micronutrient status in young Laotian children.Study designIn total, 3407 children aged 6-23 months were randomized to receive either daily ...
Arnold, Charles D   +11 more
core  

Molecular Biology at the bedside: the impact of Genomics on the practice of medicine [PDF]

open access: yes, 2002
Imagine being a newborn baby, discharged home after delivery, with a most unusual gift, a compact disc (CD) carrying all data on "My Genome". The parents would be most anxious to play it on their home PC. Soon, they could discover whether their child has
Felice, Alex
core  

Knowledge and attitude toward hemoglobinopathies premarital screening program among unmarried population in western Saudi Arabia [PDF]

open access: diamond, 2018
Safia Mohammad Binshihon   +6 more
openalex   +1 more source

A1C Underperforms as a Diagnostic Test in Africans Even in the Absence of Nutritional Deficiencies, Anemia and Hemoglobinopathies: Insight From the Africans in America Study

open access: yesFrontiers in Endocrinology, 2019
Introduction: To improve detection of undiagnosed diabetes in Africa, there is movement to replace the OGTT with A1C. The performance of A1C in the absence of hemoglobin-related micronutrient deficiencies, anemia and heterozygous hemoglobinopathies is ...
Sara M. Briker   +10 more
semanticscholar   +1 more source

Pulmonary hypertension in adolescents with sickle cell disease [PDF]

open access: yes, 2016
Sickle cell disease consists of a group of disorders that have a similar mutation in at least one of the beta-globin chains of hemoglobin. This results in a change of the hemoglobin to sickle shaped cells when in the deoxygenated state.
Akinyemi, Katherine
core   +1 more source

Narratives before numbers: Reimagining conversations about race, ethnicity, and ancestry information in genetic counseling practice

open access: yesJournal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract As genomic testing becomes more common, it is essential to re‐examine practical and ethical arguments for and against eliciting race, ethnicity, and ancestry (REA) information from patients as a default practice in genetic counseling. In this article, we evaluate current and historical reasons for using REA information in clinical genetics ...
Emily Peugh   +2 more
wiley   +1 more source

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