Red Cell Disorders

  title={Red Cell Disorders},
  author={J W Hamilton and Frank G C Jones and Mary Frances Frances McMullin},
  pages={307 - 309}
Abstract Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme of the pentose phosphate shunt pathway a major function of which is to prevent cellular oxidative damage. Deficiency in red blood cells is associated with a number of varied clinical manifestations. Chronic non-spherocytic haemolytic anaemia is uncommon but is usually characterized by chronic haemolysis, often with severe anaemia. In the past splenectomy in this condition has been thought to be of questionable benefit. We report a… 
12 Citations
Red Blood Cell Enzyme Disorders.
Recommendations regarding splenectomy in hereditary hemolytic anemias
Recommendations for hereditary hemolytic anemias were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children.
A case of G6PD Utrecht associated with β‐thalassemia responding to splenectomy
Because IVS‐Ⅱ‐654 C>T on its own does not cause CNSHA, it is believed that the clinical manifestations in this patient are essentially due to the G6PD c.1225C>T mutation.
Evaluation of the Relationship Between Hb F Levels and Nucleated Red Blood Cells with Morbidity in Non Transfusion-Dependent Thalassemia Patients
It is shown that Hb F level and developmental stage of normoblasts does not effect the incidence of morbidities in non transfusion-dependent thalassemia patients but sex and splenectomy were effective factors in development of morbidity.
Comparison for functional aberration of G-6-PD deficiency variants with exon 10 mutations
A functional analysis on some alpha haemoglobinopathies using a novel bioinformatic tool, Polyphen, indicates that the functional aberration in the G-6-PD deficiency variant is based on complex pathogenesis.
Frequency of Anemia and Blood Transfusion in Critically Ill Patients
Anemia is very frequent and multifactorial in critically ill patients and blood transfusion has become an important component in the critical care units for the management of worsening anemia during ICU stay, the study has highlightened.
Cell rigidity and shape override CD47's "self"-signaling in phagocytosis by hyperactivating myosin-II.
It is demonstrated that rigidity of a phagocytosed cell also hyperactivates myosin-II, which locally overwhelms self-signaling at a phAGocytic synapse, and physical properties of phagocytes regulate self signaling, as is relevant to erythropoiesis.
Sometimes, It's Just Black and White: Dark Urine and Pallor in a 2-Year-Old Boy.
A 2-year-old Chinese boy was admitted to the hospital after 2 days of pallor and fatigue and 1 day of dark urine, and on examination, the patient was afebrile and tachycardic, with an oxygen saturation of 88% on room air.
Splenektomie bei Kindern und Jugendlichen mit hämatologischen Erkrankungen
In diesem Kapitel werden zunachst die potenziellen, mit einer Splenektomie assoziierten Risiken und Komplikationen dargestellt and Empfehlungen zur Prophylaxe der Postsplenek tomie-Infektionen diskutiert.
Glucose-6-phosphate Dehydrogenase Deficiency
The prevalence of G6PD deficiency in Korea is about 0.9%.


Glucose-6-phosphate dehydrogenase deficiency.
The three-dimensional structure of G6PD shows a classical dinucleotide binding domain and a novel beta + alpha domain involved in dimerization, which indicates that single amino acid substitutions are a major cause of deficiency.
Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants.
By revisiting the 61 class I G6PD molecular variants described so far, it is observed that a low inhibition constant for NADPH, a higher Km for substrates and a reduced thermostability are common.
New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.
The glucose-6-phosphate dehydrogenase mutations responsible for enzyme deficiency in nine individuals with chronic nonspherocytic hemolytic anemia are identified and the mis-sense mutations 224 T-->C, 488 G-->A and 833 C-->T which have not been described before are found.
Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP)
SummaryA new glucose-6-phosphate dehydrogenase (G6PD) variant with severe erythrocytic G6PD deficiency and a unique pH optimum is described in a young patient with chronic nonspherocytic hemolytic
Two new variants of glucose‐6‐phosphate dehydrogenase associated with hereditary non‐spherocytic hemolytic anemia: G6PD wayne and G6PD huron
Two new deficient variants of glucose‐6‐phosphate dehydrogenase (G6PD) causing hereditary nonspherocytic hemolytic anemia (HNSHA) are described and they have been named G6 PD Wayne and G6PD Huron.
G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia
The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for NADP+, moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH.
G6PD deficiency and chronic hemolysis: four new mutants--relationships between clinical syndrome and enzyme kinetics.
Biochemical characterization of the erythrocyte G6PD from these patients indicates that these four mutant enzymes are different from each other and from previously reported variants.
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia
Repeated findings of the same mutations suggests that a limited number of amino acid changes can produce the CNSHA phenotype and be compatible with normal development.
Oxidative haemolysis and Heinz body haemolytic anaemia.