Results 31 to 40 of about 54,540 (236)

A report of two cases of splenectomy in children younger than two years old with hereditary spherocytosis

Journal of Pediatric Surgery Case Reports, 2015
Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia and one of the most common types of familial hemolytic anemia caused by congenital red blood cell defects.
Sheng Jin, Yeming Wu
doaj   +1 more source

Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report

BMC Medical Genetics, 2020
Background Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia.
Ling Hou, Yue Du
doaj   +1 more source

Management of autoimmune hemolytic anemia. [PDF]

Hematology Am Soc Hematol Educ Program
Autoimmune hemolytic anemia (AIHA) is caused by premature erythrocyte destruction mediated by autoantibodies (auto-Ab) with or without complement activation.
Barcellini W, Fattizzo B.
europepmc   +2 more sources

A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1.

Blood, 2022
Master regulators, such as the hematopoietic transcription factor (TF) GATA1, play an essential role in orchestrating lineage commitment and differentiation.
Leif S. Ludwig, C. Lareau, Erik L. Bao, Nan Liu, T. Utsugisawa, Alex M. Tseng, S. Myers, J. M. Verboon, J. Ulirsch, Wendy Luo, C. Muus, Claudia Fiorini, M. Olive, Christopher M. Vockley, Mathias Munschauer, A. Hunter, H. Ogura, Toshiyuki Yamamoto, H. Inada, Shin-ichiro Nakagawa, Shuichi Ozono, V. Subramanian, R. Chiarle, B. Glader, Steve Carr, Martin J. Aryee, Anshul B Kundaje, S. Orkin, A. Regev, T. McCavit, H. Kanno, V. Sankaran   +31 more
semanticscholar   +1 more source

Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia. A Report from the Pediatric Transplant and Cellular Therapy Consortium (PTCTC).

Transplantation and Cellular Therapy, 2022
INTRODUCTION Hematopoietic Cell Transplantation (HCT) is the only curative option for Congenital Dyserythropoietic Anemia (CDA), a rare type of hemolytic anemia characterized by anemia, ineffective erythropoiesis, and secondary hemochromatosis.
H. Rangarajan, J. Stanek, H. Abdel-Azim, Arunkumar J. Modi, A. Haight, C. McKinney, D. McKeone, D. Buchbinder, Emmanuel Katsanis, G. Abusin, I. Ahmed, J. Law, J. G. Silva, Kanwaldeep K. Mallhi, L. Burroughs, N. Shah, P. Shaw, R. Greiner, S. Shenoy, M. Pulsipher, R. Abu-Arja   +20 more
semanticscholar   +1 more source

A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India

Cureus, 2018
Congenital non-spherocytic hemolytic anemia (CNSHA) is a rare autosomal recessive condition that presents as a congenital hemolytic anemia. The absence of vital enzymes required for glycolysis such as homozygous glucose phosphate isomerase (GPI) and red ...
R. Sonaye, S. Sombans, K. Ramphul
semanticscholar   +1 more source

Neonatal cholestasis – A case report on congenital bile acid synthetic defect type 4 and severe anemia

Indian Journal of Case Reports, 2022
Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. We present a case of alpha methylacyl-CoA racemase (AMACR) deficiency with non-spherocytic hemolytic anemia who presented with rapidly progressive ...
S. Saxena
semanticscholar   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, Accepted Article.
Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz, Seza Ozen, Hacer N. Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet E. Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet O. Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report

Journal of Medical Case Reports, 2021
Background In neonates, rhesus D alloimmunization despite anti-D immunoglobulin prophylaxis is rare and often unexplained. Rhesus D alloimmunization can lead to hemolytic disease of the newborn with anemia and unconjugated hyperbilirubinemia.
Sandra Simony Tornoe Riis, Marianne Hoerby Joergensen, Kristina Fruerlund Rasmussen, Steffen Husby, Jane Preuss Hasselby, Lise Borgwardt, Klaus Brusgaard, Christina Ringmann Fagerberg, Henrik Thybo Christesen   +8 more
doaj   +1 more source

A contemporary simple risk score for prediction of severe acute kidney injury after heart transplantation

ESC Heart Failure, Volume 12, Issue 2, Page 1166-1175, April 2025.
A contemporary simple risk score for prediction of severe AKI after HT. Abstract Background The aim of this study was to develop a simple risk score to estimate severe acute kidney injury (AKI) risk based on a large contemporary heart transplantation (HT) cohort.
Shuangshuang Zhu, Weihua Qiao, Yixuan Wang, Ying Zhou, Yin Xu, Shijie Wang, Tian Xia, Guohua Wang, Si Chen, Jiawei Shi, Nianguo Dong   +10 more
wiley   +1 more source