Hereditary Spherocytosis

A group of familial congenital hemolytic anemias 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: 921 relevant articles (17 outcomes, 62 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease)
2.	Anemia
3.	Hemolytic Anemia
4.	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune)
5.	Splenomegaly

Experts

1.	Gallagher, Patrick G: 16 articles (01/2019 - 11/2002)
2.	Mohandas, Narla: 12 articles (03/2016 - 01/2003)
3.	Delaunay, Jean: 10 articles (08/2010 - 01/2002)
4.	Barcellini, Wilma: 8 articles (01/2022 - 09/2008)
5.	Rice, Henry E: 8 articles (10/2016 - 02/2003)
6.	Fermo, Elisa: 7 articles (01/2022 - 09/2008)
7.	Langer, Jacob C: 7 articles (11/2020 - 09/2008)
8.	Bodine, David M: 7 articles (10/2012 - 11/2002)
9.	Bianchi, Paola: 6 articles (01/2022 - 04/2012)
10.	Vercellati, Cristina: 6 articles (01/2022 - 09/2008)

Drugs and Biologics

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

1.	Proteins (Proteins, Gene)FDA Link 10/01/1998 - "[Hereditary spherocytosis: one year study of erythrocyte membrane proteins]." 08/01/1997 - "To gain additional insight into the structure and function of this protein and to provide the necessary tools for further genetic studies of hereditary spherocytosis patients, we cloned the human ANK-1 chromosomal gene. " 01/01/1979 - "[Studies on the protein composition of red-cell membrane in hereditary spherocytosis (author's transl)]." 10/01/1975 - "This review of hereditary spherocytosis emphasizes the contributions of Dr. Lawrence Young and many others of out present understanding of the disease and discusses current studies of the protein abnormality in the membrane of hereditary spherocytes." 01/27/2023 - "Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). "
2.	AnkyrinsIBA 01/01/2023 - "The present study describes the clinical profile and ankyrin 1 (ANK1) mutation status of a Chinese family with hereditary spherocytosis (HS). " 01/01/2019 - "Ankyrin Mutations in Hereditary Spherocytosis." 11/23/2018 - "Here, we use atomic force microscopy for mechanical characterization of erythrocyte, or red blood cell (RBC), EVs from healthy individuals and from patients with hereditary spherocytosis (HS) due to ankyrin deficiency. " 01/01/2018 - "Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature." 06/01/2017 - "A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period."
3.	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). " 04/01/2022 - "A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin." 12/01/2021 - "The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing." 10/12/2021 - "The new missense mutation p.C183Y was identified using WES in the SPTB gene, which is most likely the cause of clinical symptoms typical of hereditary spherocytosis (membranopathy) due to structural and functional impairments of human β-spectrin. " 10/12/2021 - "Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing."
4.	Hemoglobins (Hemoglobin)IBA 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. " 02/14/2022 - "Objective: To reveal the compensatory features of bone marrow (BM) erythropoiesis in hereditary spherocytosis (HS) and to explore the effect of diferent hemoglobin levels on this compensation. " 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. " 10/01/1981 - "[Hemoglobin G-San José associated with hereditary spherocytosis in a Mexican family (author's transl)]."
5.	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). " 01/01/2022 - "Through genome-wide association study, we identify associations between spleen iron and regulatory variation at two hereditary spherocytosis genes, ANK1 and SPTA1. " 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. " 11/01/1986 - "A family is described in which four of six siblings have both hereditary spherocytosis and evidence of abnormal iron metabolism. "
6.	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). "
7.	Pyruvate KinaseIBA 01/01/2023 - "Other red cell disorders such as hereditary spherocytosis or hereditary anaemias characterized by defective erythropoiesis might represent additional areas to investigate the therapeutic impact of pyruvate kinase activators." 11/01/2019 - "Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane." 03/01/2000 - "Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK mallorca." 01/01/2013 - "A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia." 03/01/2000 - "A partial red blood cell (RBC) pyruvate-kinase (PK-R) deficiency was found in a patient with concomitant hereditary spherocytosis (HS) and chronic hemolytic anemia. "
8.	Immunoglobulin G (IgG)IBA 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). " 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. " 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. " 05/01/1994 - "[Monoclonal IgG lambda protein in a patient with hereditary spherocytosis]."
9.	Intravenous Immunoglobulins (IVIG)FDA Link 01/01/2023 - "He had historically low CD4+ counts, fully responded to IVIG, and had undiagnosed hereditary spherocytosis. " 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."
10.	SteroidsIBA 08/01/2011 - "Steroid therapy may be effective in augmenting hemoglobin levels during hemolytic crises in children with hereditary spherocytosis." 01/01/2018 - "The diagnoses were idiopathic thrombocytopenic purpura in 31, (steroid/azathioprine-resistant, steroid dependent), hereditary spherocytosis in 9, alpha-thalassemia in 3, beta-thalassemia in 2, autoimmune hemolytic anemia in 4, and isolated splenic tuberculosis in 1. Average platelet counts preoperatively were 62000 ± 11000/mm3 (range 52000-325000/mm3). "

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. " 12/01/2021 - "In this study, clinical and biochemical methods were utilized to predict the final diagnosis of hereditary spherocytosis (HS), correlate the diagnosis with splenectomy, and examine the usefulness of this approach. "
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. " 04/13/2023 - "Laparoscopic concomitant cholecystectomy and splenectomy for true left-sided gall bladder with hereditary spherocytosis." 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. "
3.	Therapeutics 01/01/2021 - "By the advent of the effective therapies for many coagulation diseases and hereditary spherocytosis (HS), patient's survival has been improved significantly; however, if patients are diagnosed late or left untreated, both diseases could ominously be life threatening. " 01/01/2002 - "[Recombinant erythropoietins--an alternative therapy to red cell blood transfusions in infants with hereditary spherocytosis]." 01/01/2022 - "Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis." 06/01/2016 - "Splenectomy is considered standard surgical therapy in hereditary spherocytosis. " 11/01/1988 - "[Splenectomy: elective therapy in hereditary spherocytosis]."
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. " 01/01/2022 - "Study on Management of Blood Transfusion Therapy in Patients 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. " 06/01/2017 - "Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. "
5.	Lasers (Laser) 05/01/2019 - "Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next‑generation sequencing technology and matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry." 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. "