Results 11 to 20 of about 54,540 (236)

Case of Congenital Hemolytic Anemia with ATP11C and ANK1 Variants

Children, 2023
A male infant of Han descent, with a G1P1 mother and gestational age of 40+4 weeks, was born via cesarean section owing to his mother having pregnancy complications, including premature rupture of membranes, chorioamnionitis, and gestational diabetes. On
Wei Xu, Mengmeng Ma, Sai Zhao, Yufang Yuan, Zhaofang Tian   +4 more
doaj   +2 more sources

Congenital anemia: a diagnostic algorithm [PDF]

РМЖ. Мать и дитя, 2022
A.L. Zaplatnikov1, M.N. Podzolkova1, M.A. Ponimanskaya2, Yu.V. Denisova1, A.V. Dmitriev3, A.A. Dement’ev1, Zh.L. Chabaidze1, D.N. Smirnov1 1Russian Medical Academy of Continuous Professional Education, Moscow, Russian Federation 2F.I. Inozemtsev
A.L. Zaplatnikov, M.N. Podzolkova, M.A. Ponimanskaya, Yu.V. Denisova, A.V. Dmitriev, A.A. Dementiev, Zh.L. Chabaidze, D.N. Smirnov   +7 more
doaj   +2 more sources

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

Clinical Case Reports, 2022
We report herein a child with transfusion‐dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with
Naglaa Fawaz, Ismail Beshlawi, Alauldeen Alqasim, Mathew Zachariah, Roberta Russo, Immacolata Andolfo, Antonella Gambale, Anil Pathare, Achille Iolascon   +8 more
doaj   +2 more sources

Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child

Transfusion Medicine and Hemotherapy, 2022
Inborn hemolytic anemia requiring frequent blood transfusions can be a life-threatening disease. Treatment, besides blood transfusion, includes iron chelation for prevention of iron accumulation due to frequent blood transfusions.
K. Rieneck, B. Lausen, F. B. Clausen, L. Jønson, A. T. Hansen, M. Dziegiel   +5 more
semanticscholar   +1 more source

Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature

Journal of Clinical Medicine, 2021
Congenital anemias may be complicated by immune-mediated hemolytic crisis. Alloantibodies are usually seen in chronically transfused patients, and autoantibodies have also been described, although they are rarely associated with overt autoimmune ...
I. Motta, J. Giannotta, M. Ferraresi, K. Barbullushi, N. Revelli, G. Graziadei, W. Barcellini, B. Fattizzo   +7 more
semanticscholar   +1 more source

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

American journal of hematology/oncology, 2021
217-219. 9. Taylor JG 6th, Nolan VG, Mendelsohn L, Kato GJ, Gladwin MT, Steinberg MH. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One. 2008;3:e2095.
A. Lunati, A. Petit, H. Lapillonne, C. Gameiro, V. Saillour, C. Garel, D. Doummar, Leila Qebibo, A. Aissat, P. Fanen, P. Bartolucci, F. Galactéros, B. Funalot, L. Burglen, L. Mansour-Hendili   +14 more
semanticscholar   +1 more source

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.

Blood, 2020
Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological porphyrin isomer I metabolites.
J. Blouin, C. Ged, Magalie Lalanne, I. Lamrissi‐Garcia, F. Morice-Picard, P. Costet, R. Daher, F. Moreau-Gaudry, A. Bedel, H. Puy, L. Gouya, Z. Karim, E. Richard   +12 more
semanticscholar   +1 more source

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

Human Genome Variation, 2020
Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%).
H. Ogura, S. Ohga, Takako Aoki, T. Utsugisawa, Hidehiro Takahashi, A. Iwai, Kenichiro Watanabe, Y. Okuno, Kenichi Yoshida, S. Ogawa, S. Miyano, S. Kojima, Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, H. Kanno   +14 more
semanticscholar   +1 more source

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Molecular Syndromology, 2020
Heterozygous pathogenic variants in SPTB cause autosomal dominant hereditary spherocytosis, an important cause of neonatal nonimmune hemolytic anemia. Biallelic mutations are rarely reported, all with severe neonatal presentation. We describe rapid (68 h)
C. Richmond, S. Campbell, H. Foo, S. Lunke, Zornitza Stark, Amanda Moody, E. Bannister, A. Greenway, N. Brown   +8 more
semanticscholar   +1 more source

How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?

Annals of Translational Medicine, 2020
UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milan, Italy Correspondence to: Paola Bianchi, BSc, PhD.
P. Bianchi, C. Vercellati, E. Fermo
semanticscholar   +1 more source