Results 1 to 10 of about 638 (159)

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

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   +3 more sources

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   +4 more sources

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family [PDF]

BMC Medical Genomics, 2021
Background Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional cases).
Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang, Prabhakar Kedar   +4 more
doaj   +2 more sources

Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant [PDF]

Blood, 1978
We report a family with a new hexokinase variant that gives rise to nonspherocytic hemolytic anemia in one apparently homozygous family member. The variant enzyme has a normal pH optimum, normal reaction kinetics, and normal electrophoretic properties, but has reduced activity and is apparently inactivated rapidly as the affected erythrocytes age.
P G, Board, R, Trueworthy, J E, Smith, K, Moore   +3 more
openaire   +5 more sources

Molecular Characterization and Genotype‐Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam

Anemia, Volume 2022, Issue 1, 2022., 2022
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder and is caused by G6PD gene mutations. To date, more than 400 variants in the G6PD gene have been discovered, and about 160 identified variants are associated with a significant decrease in the G6PD enzyme activity.
Thi Thao Ngo, Thinh Huy Tran, Thanh Dat Ta, Thi Phuong Le, Phuoc Dung Nguyen, Mai Anh Tran, The-Hung Bui, Thanh Van Ta, Van Khanh Tran, Duran Canatan   +9 more
wiley   +1 more source

The Controversial Role of Glucose‐6‐Phosphate Dehydrogenase Deficiency on Cardiovascular Disease: A Narrative Review

Oxidative Medicine and Cellular Longevity, Volume 2021, Issue 1, 2021., 2021
Cardiovascular disorders (CVD) are highly prevalent and the leading cause of death worldwide. Atherosclerosis is responsible for most cases of CVD. The plaque formation and subsequent thrombosis in atherosclerosis constitute an ongoing process that is influenced by numerous risk factors such as hypertension, diabetes, dyslipidemia, obesity, smoking ...
Maria Pina Dore, Guido Parodi, Michele Portoghese, Giovanni Mario Pes, Jayeeta Ghose   +4 more
wiley   +1 more source

A Unifying Theory for SIDS

International Journal of Pediatrics, Volume 2009, Issue 1, 2009., 2009
The Sudden Infant Death Syndrome (SIDS) has four distinctive characteristics that must be explained by any theory proposed for it. (1) A characteristic male fraction of approximately 0.61 for all postneonatal SIDS in the US; (2) a distinctive lognormal‐type age distribution arising from zero at birth, mode at about 2 months, median at about 3 months ...
David T. Mage, Maria Donner, Edward F. Donovan   +2 more
wiley   +1 more source

EHA2021 Virtual Congress Abstract Book

, 2021
HemaSphere, Volume 5, Issue S2, June 2021.
wiley   +1 more source

Pyruvate kinase deficiency: A case series of congenital non-spherocytic hemolytic anemia

Pediatric Hematology Oncology Journal
Background: Pyruvate kinase deficiency (PKD) is a common cause of congenital non-spherocytic hemolytic anemia (CNSHA). The heterogeneity of clinical presentation complicates the diagnosis and management of this disease.
A.C. Shreyas, M. Jyothi, Vandana Bharadwaj, Anand Prakash   +3 more
doaj   +1 more source

Congenital Nonspherocytic Hemolytic Anemia, Associated with Glutathione Deficiency of the Erythrocytes [PDF]

Blood, 1966
Abstract 1. A new biochemical defect of erythrocytes is described: glutathione deficiency (reduced glutathione less than 10 per cent of the amount of reduced glutathione in normal erythrocytes). 2. The defect is associated with a clinical picture of congenital nonspherocytic hemolytic anemia which is fairly well ...
H. K. PRINS, M. OORT, J. A. LOOS, C. ZÜRCHER, T. BECKERS   +4 more
openaire   +1 more source