Results 1 to 10 of about 13,823 (169)

Atypical hemolytic uremic syndrome in infant with solitary kidney [PDF]

SAGE Open Medical Case Reports
Hemolytic uremic syndrome is an acute condition where microvascular thrombi occur in the vasculature of the renal system, resulting in thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury.
Claire Collins, Nisha Singh
doaj   +2 more sources

Exome sequencing for diagnosis of congenital hemolytic anemia [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In
Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros   +20 more
doaj   +3 more sources

RARE UNSTABLE ALPHA GLOBIN VARIANT HB TAYBE (HBA1:C.118_120DELACC) WITH HBA2 POLY A MUTATIONS, CAUSES TO HEMOLYTIC ANEMIA IN TWO CASES FROM AZERBAIJAN

Hematology, Transfusion and Cell Therapy, 2022
Objective: Sequence variants are usually silent and rarer in α-globin, some may lead to an unstable protein with hemolytic or thalassemic phenotype. The most common HBA variant is ConstantSpring which is leading to an unstable elongated protein chain ...
AghaRza Aghayev, Khuraman Jafarova, Afsana Mammadova, Zenfira Mirzeyeva, Valeh Huseynov   +4 more
doaj   +1 more source

Nonspherocytic Congenital Hemolytic Anemia [PDF]

Blood, 1960
Abstract 1. The clinical and hematological features of seven cases of nonspherocytic congenital hemolytic anemia occurring in four different families are presented, together with family studies. Four cases resemble Selwyn and Dacie’s Type I and three cases their Type II. Cases in the literature similar to our cases are reviewed.
G C, DE GRUCHY, J N, SANTAMARIA, I C, PARSONS, H, CRAWFORD   +3 more
openaire   +2 more sources

Pseudomonas aeruginosa Infection Presenting as Microangiopathic Hemolytic Anemia and Thrombocytopenia

Brown Journal of Hospital Medicine, 2022
A 28 year-old female with congenital human immunodeficiency virus infection presented with microangiopathic hemolytic anemia and thrombocytopenia secondary to multi-drug resistant *Pseudomonas aeruginosa* pulmonary infection.
Mohammad Abu-Abaa, Olena Fleury, Manish Gugnani, Daniel Goldsmith   +3 more
doaj   +1 more source

TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba

Frontiers in Molecular Biosciences, 2019
In this study the TGA/Chemometric test was applied for diagnosis of a case of congenital hemolytic anemia for which the common first level diagnostic tests were not able to find the erythrocyte congenital defect.
Roberta Risoluti, Patrizia Caprari, Giuseppina Gullifa, Loretta Diana, Matteo Luciani, Antonio Amato, Stefano Materazzi   +6 more
doaj   +1 more source

Neonatal hemolytic anemia does not always indicate thalassemia: a case report

BMC Research Notes, 2017
Background Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase.
Arwa A. Al-Harazi, Bilguis M. Al-Eryani, Butheinah A. Al-Sharafi   +2 more
doaj   +1 more source

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias

Orphanet Journal of Rare Diseases, 2021
Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis.
Bruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi, Wilma Barcellini   +3 more
doaj   +1 more source

Nonimmune Hydrops Fetalis and Early Skeletal Changes in Congenital Syphilis: Case Series and Review of Literature [PDF]

Pediatric Infectious Disease
Aim and background: Syphilis remains the most common congenital infection in the world. During pregnancy, syphilis is associated with numerous findings, including placentomegaly, hepatomegaly, polyhydramnios, fetal nonimmune hemolytic anemia, and hydrops
Kruti N Shah, Shwetal Bhatt, Vaishali Chanpura   +2 more
doaj   +1 more source

Hemoglobin Willamette (b51 Pro → Arg): case report and literature review

Hematology Reports, 2017
We report a case of hemoglobin (Hb) Willamette (β51 Pro → Arg) in the Hematology Department of a tertiary hospital in Fortaleza, Northeast of Brazil.
Orivaldo Alves Barbosa, Matheus Martins de Sousa Dias, Saymon Medeiros Távora, Gentil Claudino de Galiza Neto, Jacqueline Holanda de Souza, Herivaldo Ferreira da Silva   +5 more
doaj   +1 more source