Results 81 to 90 of about 3,873 (265)

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

Journal 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, Raghunath Pramanik, Sudipta Chakrabarty, Partha Pratim Pal, Sarama Banerjee, Arghya Bandyopadhyay   +5 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Identification of predictive factors for reversal of cerebral vasculopathy in an original longitudinal cohort study in newborns with sickle cell anaemia

British Journal of Haematology, EarlyView.
Summary Cerebral macrovasculopathy (CV) is a major complication in children with sickle cell anaemia (SCA) and usually requires a long‐term transfusion programme (TP) to prevent stroke. This study aimed to identify factors predicting reversal of CV on TP in a single‐centre newborn cohort. Among 375 patients, 50 presented CV and received TP.
Julie Sommet, Priscilla Boizeau, Zinedine Haouari, Berengère Koehl, Monique Elmaleh, Emmanuelle Lesprit, Florence Missud, Ghislaine Ithier, Laurent Holvoet, Valentine Brousse, Christophe Delclaux, André Denjean, Suzanne Verlhac, Corinne Alberti, André Baruchel, Nathalie Couque, Malika Benkerrou   +16 more
wiley   +1 more source

Prenatal diagnosis of alpha and beta thalassemias and hemophilia A: Experience in Hong Kong

, 1990
Methods and strategies are described for the prenatal diagnosis of three common congenital disorders - alpha and beta thalassemias and hemophilia A.
Chan, V
core   +1 more source

Parvovirus B19 infections in paediatric sickle cell disease patients: Genotype and hydroxyurea treatment influence disease severity

British Journal of Haematology, EarlyView.
Summary In patients with sickle cell disease (SCD), parvovirus B19 infection (B19V) leads to acute anaemia (aplastic crisis), but may also be associated with other serious complications. We retrospectively analysed clinical data from paediatric SCD patients with B19V infections between 2023 and 2025, including symptoms, laboratory parameters ...
Matthias Bleeke, Arne Simon, Beate Winkler, Sabine Heine, Anna Eichinger, Ulrich von Both, Meinolf Siepermann, Sonya El Amouri, Arndt Borkhardt, Yvonne Pritschow, Wolfgang Novak, Michael Dworzak, Sarah Goretzki, Clara Held, Karin Beutel, Franziska Gams, Henriette Rudolph, Leila Koscher, Piet E. Beusker, Eckard Hamelmann, Stefan Weichert, Svenja Häuser, Maximilian Mauritz, Malik Aydin, Verena Wiegering, Regine Grosse, Rainer Misgeld, Martina Stiefel, Nicole Töpfner, Uta Falke, Lara Imhof, Laura Tagliaferri, Daniel Ebrahimi‐Fakhari, Andreas Groll, Marion Appel, Nora Naumann‐Bartsch, Michaela Nathrath, Olaf Beck, Solvej Heidtmann, Philipp Tischer, Ulf Schulze‐Sturm, Urs Mücke, Holger Cario   +42 more
wiley   +1 more source

Detection of alpha-globin gene disorders by a simple PCR methodology

Haematologica, 1996
BACKGROUND: alpha thalassemias are very common in all thalassemic areas; however, complete knowledge of the phenotypic, genotypic and epidemiological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence ...
E Foglietta, G Deidda, B Graziani, G Modiano, I Bianco   +4 more
doaj  

A comparative study of hematological parameters of \u3b1 and \u3b2 thalassemias in a high prevalence zone: Saudi Arabia

, 2012
Background and Aims : Saudi Arabia falls in the high prevalent zone of \u3b1 and \u3b2 thalassemias. Early screening for the type of thalassemia is essential for further investigations and management.
Mehdi, Syed Riaz., Al Dahmash, Badr Abdullah.   +1 more
core  

Carrying a crisis: The risk of a painful sickle cell crisis during pregnancy

British Journal of Haematology, EarlyView.
Commentary on: Auger et al. Sickle cell anaemia with and without crises: An observational study of pregnancy outcomes. Br J Haematol 2026 (Online ahead of print). doi: 10.1111/bjh.70837.
Bart J. Biemond
wiley   +1 more source

Enlarging the gene-geography of Europe and the Mediterranean area to STR loci of common forensic use: longitudinal and latitudinal frequency gradients

Annals of Human Biology, 2018
Background: Tetranucleotide Short Tandem Repeats (STRs) for human identification and common use in forensic cases have recently been used to address the population genetics of the North-Eastern Mediterranean area.
Francesco Messina, Andrea Finocchio, Nejat Akar, Aphrodite Loutradis, Emmanuel I. Michalodimitrakis, Radim Brdicka, Carla Jodice, Andrea Novelletto   +7 more
doaj   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source