Hereditary Spherocytosis

A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.

Also Known As:

Networked: 667 relevant articles (13 outcomes, 40 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hemolytic Anemia
2.	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune)
3.	Anemia
4.	Splenomegaly
5.	Fibrosis (Cirrhosis)

Experts

1.	Gallagher, Patrick G: 13 articles (12/2013 - 11/2002)
2.	Mohandas, Narla: 12 articles (01/2016 - 01/2003)
3.	Bodine, David M: 7 articles (10/2012 - 11/2002)
4.	Rice, Henry E: 6 articles (03/2015 - 02/2003)
5.	Crary, Shelley E: 5 articles (03/2015 - 11/2007)
6.	Perrotta, Silverio: 5 articles (12/2011 - 09/2002)
7.	Peters, Luanne L: 5 articles (03/2011 - 01/2003)
8.	Delaunay, Jean: 5 articles (02/2010 - 01/2002)
9.	Eber, Stefan: 4 articles (12/2015 - 09/2002)
10.	Langer, Jacob C: 4 articles (03/2015 - 09/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Spherocytosis:

1.	Hemoglobins (Hemoglobin)IBA 08/01/2011 - "Steroid therapy may be effective in augmenting hemoglobin levels during hemolytic crises in children with hereditary spherocytosis." 02/01/1989 - "Plasma 125I-albumin was used as a marker of extracellular dilution in order to study the effect of high-speed centrifugation on transmembrane water distribution in several types of human red cells, including normal (AA), hemoglobin variants (beta A, AS, SC, beta S, and SS), and those from patients with hereditary spherocytosis. " 01/01/1987 - "The study of one patient with hereditary spherocytosis demonstrated higher hemoglobin autoxidation rate in spherocytes, which have higher hemoglobin concentration, than in normal biconcave red cells. " 01/01/2006 - "Hereditary spherocytosis and other hemolytic anomalies distort diabetic control by glycated hemoglobin." 11/01/1989 - "In 7 splenectomized and 21 non splenectomized pediatric patients with hereditary spherocytosis (HS), red cell size and hemoglobin concentration distribution (erythrograms) demonstrated the size and chromia degree of red cell populations. "
2.	IronIBA 01/01/2012 - "The aim of the present work is to examine the protection against free or loosely bound iron from the view of morphology and chemical composition of iron-rich complexes in human spleen tissues with hereditary spherocytosis (HS) by scanning and transmission electron microscope with energy-dispersive microanalysis (EDX). " 01/01/2012 - "Iron-rich complexes in human spleen in hereditary spherocytosis." 06/01/1989 - "Seventy-three patients with hereditary spherocytosis (HS) (58 nonsplenectomized, 15 splenectomized) were studied to evaluate iron status and the adequacy of iron availability for erythropoiesis. " 06/01/1989 - "Relative iron deficiency in hereditary spherocytosis." 11/01/1986 - "A family is described in which four of six siblings have both hereditary spherocytosis and evidence of abnormal iron metabolism. "
3.	BilirubinIBA 12/01/2014 - "Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. " 03/01/2010 - "Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms." 08/01/2002 - "Two patients had hyperbilirubinaemia; one patient had hereditary spherocytosis and in the other patient, the cause could be attributed to HPN with bilirubin of 54 micromol/l. " 08/01/1988 - "In a 6-year-old girl an association of hereditary spherocytosis and a defect in hepatic bilirubin metabolism has been found. " 03/01/2006 - "We prospectively studied the efficacy of near total splenectomy (NTS) for managing hereditary spherocytosis (HS) based on haemoglobin (Hb), total bilirubin and splenic remnant regrowth in 30 children receiving NTS for HS between November 1996 and December 2004 (mean followup 3.6 years). "
4.	Pyruvate KinaseIBA 03/01/2015 - "Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis." 04/01/1991 - "The same procedure was used in 6 patients with hereditary spherocytosis, in 6 patients with G-6-PD deficiency and in 4 patients with pyruvate kinase deficiency. " 12/01/1989 - "Herein, we present our experience with the 'Pink test' in the diagnosis of 16 previously diagnosed hereditary spherocytosis patients comparing the results with those obtained in 96 healthy controls, 41 beta-thalassaemias, 9 autoimmune haemolytic anaemias, 8 chronic hemoproliferative syndromes and 2 patients with pyruvate kinase deficiency. " 08/01/1970 - "Splenic macrophage interaction with red cells in pyruvate kinase deficiency and hereditary spherocytosis." 12/01/2000 - "We report the case of a 53-year-old male patient with hereditary spherocytosis as well as the case of a 59-year-old male patient with pyruvate kinase deficiency who showed intrathoracic paravertebral masses, that were identified in the first case by video-assisted thoracoscopic intervention (VATS) and in the second case by thoracotomy as a region of extramedullary hematopoiesis."
5.	Immunoglobulin G (IgG)IBA 05/01/1994 - "[Monoclonal IgG lambda protein in a patient with hereditary spherocytosis]." 01/01/1991 - "The control group consisted of normal volunteers (N = 10) and patients with hereditary spherocytosis (N = 1), beta 0-thalassemia (N = 1), immunologic thrombocytopenic purpura (N = 3) and IgG multiple myeloma (N = 4). " 09/15/2002 - "Red cell (RBC) deformability and membrane-bound immunoglobulin G (IgG) were studied to better understand premature clearance of erythrocytes in hereditary spherocytosis. " 01/01/2015 - "The IgM and IgG were positive for parvovirus B19 IgM and Epstein Barr virus, leading to the diagnosis of aplastic crisis in a patient with hereditary spherocytosis. " 07/01/1984 - "Although patients with hereditary spherocytosis, pyruvate kinase deficiency, and mechanical hemolytic anemias generally had normal concentrations of IgG bound to their red cells (less than 25 molecules IgG per red cell), we found that 39/62 (63%) patients with sickle cell anemia had elevated values. "
6.	Intravenous Immunoglobulins (IVIG)FDA Link 01/01/1989 - "Intravenous immunoglobulins as pre-operative management in a case of hereditary spherocytosis." 08/01/2000 - "Efficacy of low dose intravenous immunoglobulins for post-splenectomy treatment of autoimmune haemolytic anaemia in a patient with hereditary spherocytosis."
7.	B-Cell Antigen Receptors (B Cell Antigen Receptors)IBA 09/15/2002 - "Red cell (RBC) deformability and membrane-bound immunoglobulin G (IgG) were studied to better understand premature clearance of erythrocytes in hereditary spherocytosis. "
8.	Membrane Proteins (Integral Membrane Proteins)IBA 05/01/2011 - "In the present study, we questioned the role of oxidative stress in hereditary spherocytosis (HS), where red blood cells (RBC) have a shortened survival due to primary deficiency in membrane proteins. " 06/10/1995 - "In the present paper we report a study of 20 patients with hereditary spherocytosis (HS) performed with the aim of provide further information on the electrophoretic abnormalities of red blood cell (RBC) membrane proteins and their putative relationship with the clinical, biological and genetic aspects of the disease. " 11/16/1987 - "A spin-label study of membrane proteins and internal microviscosity of erythrocytes in hereditary spherocytosis." 03/25/2013 - "Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. " 09/01/2012 - "Marked changes in red cell membrane proteins in hereditary spherocytosis: a proteomics approach."
9.	Proteins (Proteins, Gene)IBA 10/01/1998 - "[Hereditary spherocytosis: one year study of erythrocyte membrane proteins]." 07/01/2013 - "Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. " 09/01/2010 - "Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. " 01/01/2008 - "Mutations in genes encoding these proteins cause hereditary spherocytosis. " 11/01/2005 - "The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. "
10.	SpectrinIBA 11/01/1992 - "In the study of a family originating from southern Italy, we show that a 20% deficiency of band 3 with normal spectrin content may be responsible for dominantly inherited hereditary spherocytosis (HS). " 03/01/2011 - "A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis." 01/15/2010 - "Spectrin loss reduces the membrane stability and results in various types of hereditary spherocytosis. " 12/01/2009 - "We describe a beta-spectrin variant, named beta-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. " 07/15/2008 - "Spectrin is the backbone of the erythroid cytoskeleton; sph/sph mice have severe hereditary spherocytosis (HS) because of a mutation in the murine erythroid alpha-spectrin gene. "

Therapies and Procedures

1.	Splenectomy 01/01/2011 - "Our multi-institutional review indicates that partial splenectomy for hereditary spherocytosis leads to sustained and clinically significant improvement in hematologic profiles and clinical symptoms in most patients. " 03/01/1974 - "In hereditary spherocytosis the improvement in the morphology of red blood cells was limited after splenectomy, but considerable improvement was achieved in hemolytic tendency. " 10/01/2003 - "Partial splenic embolization is a safe and effective alternative to splenectomy or partial splenectomy in the treatment of hereditary spherocytosis." 06/01/2009 - "One patient had been misdiagnosed as hereditary spherocytosis and performed splenectomy in the local hospital with no improvement in Hb level. " 10/01/2012 - "This study was designed to compare the laparoscopic subtotal splenectomy with the robotic approach in patients with hereditary spherocytosis. "
2.	Cholecystectomy 09/01/2014 - "Our experience shows that SILS splenectomy and cholecystectomy is feasible even in young children and despite the small number of cases in the world, we consider the combined laparoscopic approach safe and effective for the treatment of hereditary spherocytosis. " 06/01/1999 - "Combined laparoscopic splenectomy and cholecystectomy for the treatment of hereditary spherocytosis: is it safe and effective?" 07/01/1999 - "All patients less than 18 years old with hereditary spherocytosis who underwent splenectomy without cholecystectomy at our institution during the past 27 years were included in this study. " 09/01/2014 - "We present the case of single incision laparoscopic surgical (SILS) concomitant splenectomy and cholecystectomy performed with conventional laparoscopic instruments in an 11-year-old girl with the diagnosis of hereditary spherocytosis. " 09/01/2014 - "First experience with single incision laparoscopic surgery in Slovakia: concomitant cholecystectomy and splenectomy in an 11-year-old girl with hereditary spherocytosis."
3.	Lasers (Laser) 01/01/2005 - "Permanent significant hyperchromia, equivalent to hyperspherocytosis, the leading symptom of hereditary spherocytosis (HS), has become accessible to routine screening by hematologic automats using double angle laser technology. " 01/01/2005 - "Modern double beam laser technique allows screening for hereditary spherocytosis in the course of routine hematology. " 06/01/1996 - "Assessment of the severity of hereditary spherocytosis using routine haematological data obtained with dual angle laser scattering cytometry." 08/01/1993 - "Efficacy in the diagnosis of hereditary spherocytosis (HS) using a system of dual-angle differential light scattering of a monochromatic laser beam on sphere-shaped and fixed erythrocytes was evaluated. " 08/01/1989 - "Thirty four cases of hereditary spherocytosis were studied by means of laser diffraction cytometry. "
4.	Blood Transfusion (Blood Transfusions) 08/01/2011 - "The course of hereditary spherocytosis (HS) may be subject to hemolytic episodes, sometimes requiring blood transfusion. " 01/01/2000 - "The lack of appropriate erythropoietic response to compensate for increased red cell destruction necessitates blood transfusions in 70-80% of hereditary spherocytosis-affected infants during their first year of life. " 01/01/2000 - "Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis." 10/01/2006 - "The study included six patients (7-20 years) with thalassemia major (TM) who had received multiple blood transfusions, one with hereditary spherocytosis (four blood transfusions) and one with sickle cell disease (never transfused); they were compared to three children with idiopathic pulmonary hemosiderosis (IPH) (2.5-7.0 years) as positive controls. " 01/01/1993 - "The retrospective analysis was done on 167 patients: 132 thalassemia, 19 leukemia, 5 aplastic anemia, 5 ITP, 2 pure red cell aplasia, 2 congenital non spherocytic hemolytic anemia, 1 hereditary spherocytosis and 1 autoimmune hemolytic anemia patients, who received blood transfusion during January 1, 1987 till February 29, 1992 at the Department of Pediatrics, Ramathibodi Hospital. "
5.	Sutures (Suture) 09/01/2015 - "The aim of this study was to describe the suture suspension technique contributing to SILS for hereditary spherocytosis (HS). " 09/01/2015 - "Single-Incision Laparoscopic Splenectomy Using the Suture Suspension Technique for Splenomegaly in Children with Hereditary Spherocytosis."