Several members of a Ugandan family were heterozygous for the gamma beta fusion gene of Haemoglobin Kenya. Levels of Hb Kenya were significantly higher than those in subjects of previous reports, ranging from 20.68 to 23.35% of the total haemoglobin. The individuals had also 5-8% Hb F, consisting solely of alpha and Ggamma chains. Investigation of the distribution of Hb F among the red cells of Hb Kenya heterozygotes, using monospecific antibodies absorbed against pure Hb Kenya and rendered fluorescent by conjugation with fluorescein isothiocyanate, showed the presence of fetal haemoglobin in all red cells. The data suggest that the phenotype of the Hb Kenya trait resembles that of the Ggamma form of hereditary persistence of fetal haemoglobin rather than that of thalassaemia.
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http://dx.doi.org/10.1111/j.1365-2141.1976.tb01875.x | DOI Listing |
BMC Pregnancy Childbirth
January 2025
Department of Intensive Care Medicine, Army Medical Center of PLA, No. 10 Changjiang Road, Yuzhong District, Chongqing, 400010, People's Republic of China.
Background: Pregnancy-associated atypical hemolytic uremic syndrome (aHUS) is a form of thrombotic microangiopathy (TMA) caused by uncontrolled activation of the complement system during pregnancy or the postpartum period. In the intensive care unit, aHUS must be differentiated from sepsis-related multiple organ dysfunction, thrombotic thrombocytopenic purpura (TTP), hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome. Early recognition of aHUS is critical for effective treatment and improved prognosis.
View Article and Find Full Text PDFDiagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.
Int J Womens Health
January 2025
Department of Obstetrics and Gynecology, Hangzhou Women's Hospital, Hangzhou, Zhejiang, People's Republic of China.
Purpose: This study aimed to examine the effects of gestational diabetes mellitus (GDM) on the risk of pregnancy complications in twin pregnancies and to investigate the relationship between glycemic levels and the risk of preeclampsia (PE) and abnormal fetal growth.
Patients And Methods: A retrospective cohort study of 736 twin pregnancies was conducted at a tertiary hospital. Propensity score matching and multivariable logistic models were utilized to compare maternal and neonatal outcomes between twin pregnancies with GDM and those without GDM.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDFBiomedicines
January 2025
Ecogenetics and Human Health Unit, Environmental Health Institute (ISAMB), Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisbon, Portugal.
Retinopathy of prematurity (ROP) is a leading cause of vision impairment in preterm infants, with its pathogenesis linked to oxygen exposure. Red blood cell (RBC) transfusions, commonly performed in neonatal intensive care units (NICUs), reduce fetal hemoglobin (HbF) fraction, altering oxygen dynamics and potentially contributing to ROP. We aimed to investigate the relationship between RBC transfusions, HbF percentage, and ROP, evaluating HbF as a potential predictive biomarker.
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