Type 1 Spherocytosis

An autosomal dominant form of hereditary spherocytosis that is characterized by the presence of SPHEROCYTES on the peripheral blood smear. Patients often present with ANEMIA; JAUNDICE and SPLENOMEGALY, resulting in complications that may include CHOLELITHIASIS; HEMOLYSIS, and aplastic crises. Caused by mutations in the ANK1 gene. OMIM: 182900

Also Known As:

Spherocytosis, Type 1; Congenital Spherocytic Hemolytic Anemia; Congenital Spherocytosis; SPH1; Spherocytic Anemia; Spherocytosis, Hereditary, 1

Networked: 81 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Anemia
2.	Cytopenia
3.	Pyruvate Kinase Deficiency of Red Cells
4.	Hemolytic Anemia
5.	Splenomegaly

Experts

1.	Jiang, Haobo: 5 articles (01/2022 - 07/2014)
2.	Wang, Yang: 5 articles (01/2022 - 07/2014)
3.	Lu, Zhiqiang: 2 articles (01/2020 - 07/2014)
4.	Timoney, J F: 2 articles (12/2016 - 02/2004)
5.	Hartson, Steven D: 1 article (01/2022)
6.	Jin, Qiao: 1 article (01/2022)
7.	Benedit, María: 1 article (10/2020)
8.	Cervera Bravo, Áurea: 1 article (10/2020)
9.	Darnaude, María Teresa: 1 article (10/2020)
10.	Panizo Morgado, Elena: 1 article (10/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 1 Spherocytosis:

1.	ChromatinIBA 03/30/1988 - "Within 12 minutes postinsemination SpH1 is phosphorylated and lost from the chromatin. " 12/01/1988 - "A study of the complexes formed between short linear DNA and three H1 variants, a typical somatic H1, and the extreme variants H5, from chicken erythrocytes, and spH1 from sea urchin sperm, has revealed differences between H1, H5 and spH1 that have implications for chromatin structure and folding. " 04/01/1996 - "H1 variants (spH1 and H5) from transcriptionally repressed nuclei have a stronger preference than H1 for methylated DNA, suggesting that this may be relevant to the stabilization of chromatin higher order structure and transcriptional repression." 04/15/1992 - "The occurrence of repeating tetrapeptides in SpH1 and other DNA binding proteins suggests that such domains may function similarly in various chromatins undergoing regulated or reversible condensation." 03/01/1992 - "In addition, two "sperm-specific" histone genes (SpH1 and SpH2B) are expressed exclusively in testis and their corresponding products are incorporated in sperm chromatin. "
2.	Serine Proteases (Serine Protease)IBA 10/01/2018 - "HP14, HP21, proHP1*, HP6, HP8, PAP1-3, and non-catalytic serine protease homologs (SPH1 and SPH2) constitute a portion of the extracellular SP-SPH system to mediate melanization and other immune responses. " 07/01/2014 - "In Manduca sexta, three PAPs can activate proPOs in the presence of two serine proteinase homologs (SPH1 and SPH2). " 01/01/2014 - "BmHP21, BmSPH1 and BmSPH2, Bombyx mori orthologs of Manduca sexta serine protease HP21, serine protease homologs (SPH1 and SPH2), and a prophenoloxidase, BmPO1 were observed as inactive forms in the plasma, but as putatively active forms in the nodule. " 01/01/2017 - "To explore the underlying mechanism, we separated by SDS-PAGE naïve and induced larval plasma treated with buffer or MBP and detected on immunoblots changes in intensity and/or mobility of hemolymph (serine) proteases [HP14, HP21, HP6, HP8, proPO-activating proteases (PAPs) 1-3] and their homologs (SPH1, SPH2). " 01/01/2020 - "Here we present biochemical evidence that PO-catalyzed melanin formation, Spätzle-triggered Toll activation, and induced synthesis of antimicrobial peptides are stimulated via hemolymph (serine) protease 5 (HP5) in Manduca sexta Previous studies have demonstrated a protease cascade pathway in which HP14 activates proHP21; HP21 activates proPAP2 and proPAP3, which then activate proPO in the presence of a complex of SPH1 and SPH2. "
3.	Peptide Hydrolases (Proteases)FDA Link 07/01/2014 - "This proteinase, PAP3, generated active SPH1 and SPH2, which function as cofactors for PAP3 in proPO activation. " 01/01/2017 - "To explore the underlying mechanism, we separated by SDS-PAGE naïve and induced larval plasma treated with buffer or MBP and detected on immunoblots changes in intensity and/or mobility of hemolymph (serine) proteases [HP14, HP21, HP6, HP8, proPO-activating proteases (PAPs) 1-3] and their homologs (SPH1, SPH2). " 01/01/2022 - "cDNA cloning and genome analysis indicate that SPH1a (formerly known as SPH1), SPH1b, SPH4, SPH101, and SPH2 contain a clip domain, a linker, and a protease-like domain (PLD). " 01/01/2020 - "Here we present biochemical evidence that PO-catalyzed melanin formation, Spätzle-triggered Toll activation, and induced synthesis of antimicrobial peptides are stimulated via hemolymph (serine) protease 5 (HP5) in Manduca sexta Previous studies have demonstrated a protease cascade pathway in which HP14 activates proHP21; HP21 activates proPAP2 and proPAP3, which then activate proPO in the presence of a complex of SPH1 and SPH2. "
4.	DNA (Deoxyribonucleic Acid)IBA 12/01/1988 - "In contrast, H1 binds distributively over all the DNA molecules in 5 mM NaCl, but forms short stretches similar in appearance to the thin filaments formed with H5 and spH1. " 12/01/1988 - "With sufficiently long DNA the complexes may be circular, circles forming more easily with H5 and spH1 than with H1. " 12/01/1988 - "A study of the complexes formed between short linear DNA and three H1 variants, a typical somatic H1, and the extreme variants H5, from chicken erythrocytes, and spH1 from sea urchin sperm, has revealed differences between H1, H5 and spH1 that have implications for chromatin structure and folding. " 04/01/1996 - "H1 variants (spH1 and H5) from transcriptionally repressed nuclei have a stronger preference than H1 for methylated DNA, suggesting that this may be relevant to the stabilization of chromatin higher order structure and transcriptional repression." 12/01/1988 - "2. The binding of H5 and spH1 to DNA is cooperative even in 5 mM NaCl, resulting in well-defined thin filaments that appear to contain two DNA molecules bridged by histone molecules. "
5.	Melanins (Melanin)IBA 09/12/2008 - "This complex, consisting of the 76-kDa Tenebrio phenoloxidase and an active form of Tenebrio clip-domain SPH1, efficiently produces melanin on the surface of bacteria, and this activity has a strong bactericidal effect. " 01/01/2020 - "Here we present biochemical evidence that PO-catalyzed melanin formation, Spätzle-triggered Toll activation, and induced synthesis of antimicrobial peptides are stimulated via hemolymph (serine) protease 5 (HP5) in Manduca sexta Previous studies have demonstrated a protease cascade pathway in which HP14 activates proHP21; HP21 activates proPAP2 and proPAP3, which then activate proPO in the presence of a complex of SPH1 and SPH2. "
6.	Pyruvate KinaseIBA 03/01/1977 - "Kinetic studies of semi-purified pyruvate kinase were performed from the erythrocytes of 22 subjects with congenital non-spherocytic anemia with pyruvate kinase deficiency and 25 heterozygous relatives. "
7.	Phosphoglycerate Mutase (Phosphoglyceromutase)IBA 02/01/2005 - "Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies."
8.	Phenytoin (Dilantin)FDA LinkGeneric 07/01/1975 - "To study the effects of diphenylhydantoin (Dilantin, DPH) on membrane function, DPH was incubated with erythrocytes from normal individuals and from patients with congenital spherocytic hemolytic anemia and osmotic fragility measured. " 07/01/1975 - "Diphenylhydantoin and fragility of erythrocytes in normal subjects and in patients with hereditary spherocytic anemia."
9.	IsoenzymesIBA 02/01/2005 - "Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies."
10.	Antimicrobial PeptidesIBA 01/01/2020 - "Here we present biochemical evidence that PO-catalyzed melanin formation, Spätzle-triggered Toll activation, and induced synthesis of antimicrobial peptides are stimulated via hemolymph (serine) protease 5 (HP5) in Manduca sexta Previous studies have demonstrated a protease cascade pathway in which HP14 activates proHP21; HP21 activates proPAP2 and proPAP3, which then activate proPO in the presence of a complex of SPH1 and SPH2. "

Therapies and Procedures

1.	Splenectomy 04/01/1958 - "Splenectomy is beneficial in almost every case of congenital spherocytosis, but in only half the cases of the acquired defect. " 09/01/1997 - "We present a case report of laparoscopic splenectomy in two patients with congenital spherocytosis. " 03/01/1992 - "A young female patient had a recurrence of severe spherocytic anemia there years after having been submitted to splenectomy. " 11/13/1971 - "Red-blood-cell survival after splenectomy in congenital spherocytosis." 06/01/1960 - "Hereditary spherocytic anemia: a clinical report of 11 splenectomies in one family with an appended family "tree"."
2.	Therapeutics 07/01/2012 - "In IMS I and II, hemorrhages in subjects with sPH2 were similar in volume to those in subjects with sPH1 and were associated with a smaller rather than a larger total lesion volume compared with other PH in the setting of combined IV/IA therapy. " 05/01/1985 - "For conditions other than congenital spherocytosis, in which splenectomy is uniformly of value, a decision to remove the spleen should be based on severity of the hemolytic process, failure to respond to other therapies, and the potential for achieving significant improvement in anemia and other associated cytopenias."
3.	Surgical Instruments (Clip) 02/01/1995 - "A 16-year-old girl with marked splenomegaly (spleen size for times normal and weighing 600 g) due to congenital spherocytosis underwent laparoscopic splenectomy and retrieval of the spleen through the umbilical trocar site. " 09/12/2008 - "This complex, consisting of the 76-kDa Tenebrio phenoloxidase and an active form of Tenebrio clip-domain SPH1, efficiently produces melanin on the surface of bacteria, and this activity has a strong bactericidal effect. " 01/01/2022 - "cDNA cloning and genome analysis indicate that SPH1a (formerly known as SPH1), SPH1b, SPH4, SPH101, and SPH2 contain a clip domain, a linker, and a protease-like domain (PLD). " 09/12/2008 - "Here, we provide biochemical evidence that the Tenebrio molitor Spätzle-processing enzyme converts both the 79-kDa Tenebrio prophenoloxidase and Tenebrio clip-domain SPH1 zymogen to an active melanization complex. "
4.	Cholecystectomy 11/01/2014 - "Patient 2 had a history of splenectomy for congenital spherocytosis, cholecystectomy, choledocholithotomy, and bile duct duodenal anastomosis for hepatolithiasis. "
5.	Blood Transfusion (Blood Transfusions) 01/01/2022 - "Massive hemolysis accentuated by congenital spherocytosis, confirmed later, imposed blood transfusion and dynamic monitoring."