Results 161 to 170 of about 54,540 (236)

Congenital Hemolytic Anemia

Pediatrics In Review, 1985
Anemia due to premature destruction of RBCs is classified as hemolytic, and may be secondary to acquired or inherited (congenital) abnormalities in RBC membrane, hemoglobin, or metabolism. This article reviews the topic of congenital hemolytic anemias and points out a practical approach to diagnosis and therapy. PATHOPHYSIOLOGY
Joseph E. Addiego, Deborah Hurst, Bertram H. Lubin   +2 more
openaire   +1 more source

Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Hemoglobin, 2019
In this study, we report on a compound heterozygote for variants in the key erythroid transcription factor Krüppel-like factor 1 (KLF1) gene in a patient who presented with severe, transfusion-dependent hemolytic anemia.
Hua Jiang, F. Jiang, Jian Li, F. Tang, Dongzhi Li   +4 more
semanticscholar   +1 more source

Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia

Hemoglobin
Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of hemolytic anemia can be divided into hemoglobinopathies, membranopathies, and enzymopathies ...
Amal Chiguer, J. Lyahyai, Youssef El Kadiri, I. Cherkaoui Jaouad, Y. Doubaj, A. Sefiani   +5 more
semanticscholar   +1 more source

Hemolytic Anemias: Congenital and Acquired

Hospital Practice, 1980
Hemolytic anemia may result from a wide variety of causes, both intrinsic and extrinsic. Diagnosis and appropriate therapy mandate identification of the specific etiology--be it membrane, enzyme, or immunologic defect, toxin, or trauma.
openaire   +2 more sources

An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency

Expert Review of Hematology, 2022
Introduction Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Until recently, treatment had been limited to supportive management including red blood cell transfusions, splenectomy, and management ...
Andrew B. Song, Hanny T Al-Samkari
semanticscholar   +1 more source

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.

Journal of pediatric hematology/oncology, 2018
Congenital dyserythropoietic anemias (CDAs) are rare hereditary blood disorders characterized by ineffective erythropoiesis, hemolysis, and erythroblast morphologic abnormalities in the bone marrow. The 3 main types of CDA, I to III, and variant types of
S. Aydin Koker, T. Karapınar, Y. Oymak, P. Bianchi, E. Fermo, Salih Gozmen, C. Vergin   +6 more
semanticscholar   +1 more source

ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.

Biochemical and Biophysical Research Communications - BBRC, 2019
Distribution of phosphatidylserine (PS) in the erythrocyte membrane is essential for its activity. Flippase transports phospholipids from the outer to the inner leaflet of the lipid bilayer and maintains asymmetric distribution of phospholipids in the ...
Nobuto Arashiki, K. Niitsuma, Momoko Seki, Y. Takakuwa, F. Nakamura   +4 more
semanticscholar   +1 more source

Congenital Hemolytic Anemia in the Newborn

A.M.A. Journal of Diseases of Children, 1957
The natural history of congenital hemolytic jaundice (congenital hemolytic anemia, hereditary spherocytosis) is well known in the medical literature. A number of reviews have pointed out the usual features of this disease, which is characterized clinically by a positive family history, dominant mode of inheritance, recurrent crises, splenomegaly ...
C C, STAMEY, L K, DIAMOND
openaire   +2 more sources

CONGENITAL HEMOLYTIC ANEMIA

Journal of the American Medical Association, 1951
The purpose of this paper is to present an interesting family pedigree of four generations in which familial hemolytic anemia or jaundice was present. The grandmother of Mrs. K. died at the age of 23 years from "complications of an enlarged spleen and yellow jaundice." A sister of the grandmother also died of yellow jaundice in the fifth decade.
M, SHELLHOUSE, H R, MORRIS, V L, COTTERMAN   +2 more
openaire   +2 more sources

[Congenital hemolytic anemia].

Bilten za hematologiju i transfuziju, 1980
The cases of 91 patients with congenital hemolytic anemia (H.a.) are reported. The causes of congenital H.a. and the laboratory test by which the diagnosis and precise subclassification of the disease were facilitated are indicated. Emphasis is placed on the therapeutic significance of splenectomy in those patients In whom laboratory tests with a ...
J, Konja, A, Tiefenbach
openaire   +1 more source