Results 91 to 100 of about 920,848 (226)

KETERKAITAN JUMLAH DAERAH TERMUTASI PADA GEN β-GLOBIN DENGAN INDEKS KORPUSKULAR PEMBAWA SIFAT β-THALASSEMIA [PDF]

, 2016
Thalassemia is a genetic disorder caused by point mutations on the globin gene that decrease the corpuscular index in thalassemia carriers. Three to five percent of Indonesians are thalassemia carriers, with β-thalassemia being the most common type. This
Priyambodo, Priyambodo
core   +1 more source

Mutational analysis of the Janus kinase II (V617F) gene in patients with β-Thalassemia major

Zanco Journal of Pure and Applied Sciences, 2020
β-Thalassemia is a group of congenital hemolytic anemia that characterized by the underproduction of the indispensable hemoglobin molecule, the oxygen and carbon dioxide carrying protein inside the red cells.
Salar Adnan Ahmed
doaj   +1 more source

Hemoglobin Lepore‐Boston‐Washington: A Rare Cause of Unmeasurable HbA1c and Diagnostic Challenge in Diabetes

Journal of Clinical Laboratory Analysis, EarlyView.
Filippo Russo, Silvia Trombetti, Maria Rosaria Storino, Raffaele Sessa, Carmela De Felice, Giuseppe Schiavone, Michela Grosso   +6 more
wiley   +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

Identifikasi Mutasi Gen β Globin Ekson 1 Pada Pembawa Thalassemia [PDF]

, 2015
Thalassemia is an autosomal recessive genetic mutation disorder with symptoms similliar to anemia that causes deficiency synthesis of the globin chains (hemoglobin component inside erythrocytes).
Tripramudya Onggo, Andika, Satuti Nur Handayani, Niken   +1 more
core   +1 more source

Predicting factors of survival rates among alpha- and beta-thalassemia patients: a retrospective 10-year data analysis

Frontiers in Hematology
BackgroundThalassemia is a genetic hemoglobinopathy in which a defective globin chain can cause transfusion-dependent anemia and other complications.
Kunapa Iam-arunthai, Tawatchai Suwanban, Pravinwan Thungthong, Supat Chamnanchanunt, Supat Chamnanchanunt, Suthat Fucharoen   +5 more
doaj   +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

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities

Anemia
Beta-thalassemia exhibits a broad phenotypic range influenced by the severity of HBB mutation and various genetic modifiers. One of the most essential modifiers is the coinheritance of α-globin gene mutation.
Sethapong Lertsakulbunlue, Boonchai Boonyawat, Chanchai Traivaree, Apichat Photia   +3 more
doaj   +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

Diabetes mellitus in β-thalassemia major patients

, 2003
β-thalassemia major is a disease caused by β polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no β globin chain synthesis.
Setiawan, Santy, Munthe, Bulan G., Kusnandar, Simon, Wirawan, Riadi   +3 more
core   +1 more source