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Ugeskrift For Laeger Oct 1979
Topics: Animals; Diagnosis, Differential; Humans; Mice; Spherocytosis, Hereditary
PubMed: 524481
DOI: No ID Found -
Naika. Internal Medicine Dec 1968
Topics: Adult; Anemia, Hemolytic, Congenital; Blood Glucose; Erythrocytes; Female; Hemolysis; Humans; Spherocytosis, Hereditary; Splenectomy
PubMed: 5719273
DOI: No ID Found -
Deutsche Medizinische Wochenschrift... Feb 1994
Topics: Aspirin; Combined Modality Therapy; Erythrocyte Count; Humans; Recurrence; Spherocytosis, Hereditary; Splenectomy; Thrombophlebitis
PubMed: 8313846
DOI: No ID Found -
Archives of Internal Medicine Jul 1980A patient with both hereditary spherocytosis and hemochromatosis is described. At the time of the initial diagnosis of hereditary spherocytosis and shortly after...
A patient with both hereditary spherocytosis and hemochromatosis is described. At the time of the initial diagnosis of hereditary spherocytosis and shortly after splenectomy, 8 g of iron was removed by phlebotomy. During the next 15 years, the patient continued to accumulate excess iron despite splenectomy-induced remission of the hemolytic disorder. Thus the hemochromatosis in this patient was not secondary to the hereditary spherocytosis but rather represented a primary, ie, genetic abnormality of iron absorption.
Topics: Adult; Hemochromatosis; Humans; Male; Spherocytosis, Hereditary
PubMed: 7387309
DOI: No ID Found -
Acta Haematologica 2022Hereditary spherocytosis (HS) is a congenital disease in which erythrocyte membranes are abnormal, with ANK1 defects as the main cause. The diagnosis of neonatal HS is...
Hereditary spherocytosis (HS) is a congenital disease in which erythrocyte membranes are abnormal, with ANK1 defects as the main cause. The diagnosis of neonatal HS is difficult due to poor phenotypic specificity. Therefore, a detailed inquiry into family history may be helpful for diagnosis. Here, we describe a familial case of HS caused by a novel mutation in ANK1. The proband is a premature infant of Chinese Han ethnicity characterized by progressive aggravation of anemia and jaundice. The disease was caused by a frameshift mutation (c.3392delT/p.Leu1131Argfs*15) of ANK1 that was identified by genetic testing. In vitro functional experiments showed that this variant may seriously affect the protein expression and further expanded the mutation spectrum of ANK1-HS. In this case, we emphasize the diagnostic value of early-intervention genetic testing for neonatal hemolytic anemia with a family history.
Topics: Infant; Infant, Newborn; Humans; Ankyrins; Spherocytosis, Hereditary; Mutation; Asian People; Genetic Testing
PubMed: 35817016
DOI: 10.1159/000525054 -
Nihon Naika Gakkai Zasshi. the Journal... Sep 1999
Review
Topics: Anion Exchange Protein 1, Erythrocyte; Ankyrins; Asian People; Blood Proteins; Cytoskeletal Proteins; Humans; Japan; Membrane Proteins; Mutation; Spectrin; Spherocytosis, Hereditary
PubMed: 10581770
DOI: No ID Found -
Hematology. American Society of... Nov 2018Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural... (Review)
Review
Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Alterations in cell volume as a result of disordered membrane cation permeability account for reduced life span red cells in HX and OHS. Importantly, splenectomy is not beneficial in these 2 membrane transport disorders and is not recommended because it is ineffective and may lead to an increased risk of life-threatening thrombosis. Rational approaches are now available for the diagnosis and management of these inherited red cell disorders, and these will be discussed in this review.
Topics: Anemia, Hemolytic, Congenital; Elliptocytosis, Hereditary; Erythrocyte Membrane; Humans; Hydrops Fetalis; Risk Factors; Spherocytosis, Hereditary; Thrombosis
PubMed: 30504335
DOI: 10.1182/asheducation-2018.1.377 -
Pediatric Dermatology 2003Indolent leg ulcers are a rare complication found in patients with hereditary spherocytosis. We report a 13-year-old girl with hereditary spherocytosis who developed a...
Indolent leg ulcers are a rare complication found in patients with hereditary spherocytosis. We report a 13-year-old girl with hereditary spherocytosis who developed a chronic painful ulcer on the medial malleolus. All other etiologies were ruled out. Nine months after splenectomy the ulcer healed completely and the symptoms disappeared. We discuss and review this unusual entity in children.
Topics: Adolescent; Female; Humans; Leg Ulcer; Spherocytosis, Hereditary; Splenectomy
PubMed: 14521562
DOI: 10.1046/j.1525-1470.2003.20512.x -
Journal of Neuropathology and... Feb 2020Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive...
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11.2. Currently, there are no clinical descriptions of patients with IBGC occurring within the context of a complex genetic syndrome. Here, we present a case of pediatric 8p11 deletion with IBGC, hereditary spherocytosis, vitreoretinopathy, and focal cortical dysplasia. We review multiple cases of IBGC with pediatric onset due to SLC20A2 deletion in the literature, and raise the consideration of IBGC in the evaluation of pediatric patients with 8p11.2 deletion syndromes.
Topics: Basal Ganglia Diseases; Brain; Calcinosis; Chromosome Deletion; Chromosomes, Human, Pair 8; Female; Humans; Sodium-Phosphate Cotransporter Proteins, Type III; Spherocytosis, Hereditary
PubMed: 31913475
DOI: 10.1093/jnen/nlz133 -
Kathmandu University Medical Journal... 2015Hereditary spherocytosis is an autosomal dominant congenital hemolytic anemia due to defect in RBC membrane protein that commonly presents with intermittent jaundice,...
Hereditary spherocytosis is an autosomal dominant congenital hemolytic anemia due to defect in RBC membrane protein that commonly presents with intermittent jaundice, anemia, abdominal pain, splenomegaly and sometimes cholelithiasis. Due to the membrane defect, there is increased fragility, hemolytic anemia, marked splenomegaly and hyperbilirubinemia. This is a report of an 11 years old male diagnosed case of hereditary spherocytosis who presented with jaundice, splenomegaly and cholelithiasis. He underwent elective open splenectomy and cholecystectomy after prophylactic immunization for capsulated organisms and was advised lifelong oral penicillin prophylaxis post-splenectomy.
Topics: Abdominal Pain; Child; Cholecystectomy; Cholelithiasis; Elective Surgical Procedures; Humans; Jaundice; Male; Nepal; Spherocytosis, Hereditary; Splenectomy; Splenomegaly
PubMed: 27423290
DOI: 10.3126/kumj.v13i4.16839