An overview of hereditary spherocytosis and the curative effects of splenectomy
Hereditary spherocytosis is a common hemolytic anemia with different severity. The causes of hereditary spherocytosis are mutations in genes that encode red blood cell (RBC) membrane and cytoskeletal proteins, including ankyrin-1, Band 3 (or AE1), α spectrin, β spectrin, and protein 4.2. Molecular d...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Physiology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphys.2025.1497588/full |
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| author | Kyril Turpaev Elizaveta Bovt Elizaveta Bovt Soslan Shakhidzhanov Soslan Shakhidzhanov Elena Sinauridze Elena Sinauridze Nataliya Smetanina Larisa Koleva Larisa Koleva Nikita Kushnir Nikita Kushnir Anna Suvorova Fazoil Ataullakhanov Fazoil Ataullakhanov Fazoil Ataullakhanov |
| author_facet | Kyril Turpaev Elizaveta Bovt Elizaveta Bovt Soslan Shakhidzhanov Soslan Shakhidzhanov Elena Sinauridze Elena Sinauridze Nataliya Smetanina Larisa Koleva Larisa Koleva Nikita Kushnir Nikita Kushnir Anna Suvorova Fazoil Ataullakhanov Fazoil Ataullakhanov Fazoil Ataullakhanov |
| author_sort | Kyril Turpaev |
| collection | DOAJ |
| description | Hereditary spherocytosis is a common hemolytic anemia with different severity. The causes of hereditary spherocytosis are mutations in genes that encode red blood cell (RBC) membrane and cytoskeletal proteins, including ankyrin-1, Band 3 (or AE1), α spectrin, β spectrin, and protein 4.2. Molecular defects in these proteins decrease membrane integrity, leading to vesiculation, decreased membrane surface area, and reduced deformability of the cells. Eventually, this leads to the trapping the abnormal RBCs (spherocytes) in the spleen. In most severe cases, splenectomy may be necessary to prevent general RBC collapse during the passage of RBCs through the narrow slits of venous sinuses in the spleen. The clinical benefit of splenectomy results from elimination the primary site of RBC damage and destruction. Splenectomy is a curative approach but can cause complications and should be undertaken after examination by various laboratory approaches. Splenectomy does not correct most genetically determined membrane abnormalities in erythrocytes in patients with hereditary spherocytosis. The transformation of biconcave erythrocytes into spherocytes continues, although to a lesser degree than before surgery. Nevertheless, splenectomy increases the lifespan of red cells, significantly reducing the severity of anemia and improving many physiological signs of HS. |
| format | Article |
| id | doaj-art-7ef1643f45dd41bc890e494fa4022aae |
| institution | Kabale University |
| issn | 1664-042X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Physiology |
| spelling | doaj-art-7ef1643f45dd41bc890e494fa4022aae2025-02-11T07:00:10ZengFrontiers Media S.A.Frontiers in Physiology1664-042X2025-02-011610.3389/fphys.2025.14975881497588An overview of hereditary spherocytosis and the curative effects of splenectomyKyril Turpaev0Elizaveta Bovt1Elizaveta Bovt2Soslan Shakhidzhanov3Soslan Shakhidzhanov4Elena Sinauridze5Elena Sinauridze6Nataliya Smetanina7Larisa Koleva8Larisa Koleva9Nikita Kushnir10Nikita Kushnir11Anna Suvorova12Fazoil Ataullakhanov13Fazoil Ataullakhanov14Fazoil Ataullakhanov15Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaCenter for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of Sciences, Moscow, RussiaMoscow Institute of Physics and Technology, National Research University, Dolgoprudny, RussiaPerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United StatesHereditary spherocytosis is a common hemolytic anemia with different severity. The causes of hereditary spherocytosis are mutations in genes that encode red blood cell (RBC) membrane and cytoskeletal proteins, including ankyrin-1, Band 3 (or AE1), α spectrin, β spectrin, and protein 4.2. Molecular defects in these proteins decrease membrane integrity, leading to vesiculation, decreased membrane surface area, and reduced deformability of the cells. Eventually, this leads to the trapping the abnormal RBCs (spherocytes) in the spleen. In most severe cases, splenectomy may be necessary to prevent general RBC collapse during the passage of RBCs through the narrow slits of venous sinuses in the spleen. The clinical benefit of splenectomy results from elimination the primary site of RBC damage and destruction. Splenectomy is a curative approach but can cause complications and should be undertaken after examination by various laboratory approaches. Splenectomy does not correct most genetically determined membrane abnormalities in erythrocytes in patients with hereditary spherocytosis. The transformation of biconcave erythrocytes into spherocytes continues, although to a lesser degree than before surgery. Nevertheless, splenectomy increases the lifespan of red cells, significantly reducing the severity of anemia and improving many physiological signs of HS.https://www.frontiersin.org/articles/10.3389/fphys.2025.1497588/fullhereditary spherocytosisgene mutationserythrocyte cytoskeletonerythrocyte deformabilityspherocytesmicrocirculation |
| spellingShingle | Kyril Turpaev Elizaveta Bovt Elizaveta Bovt Soslan Shakhidzhanov Soslan Shakhidzhanov Elena Sinauridze Elena Sinauridze Nataliya Smetanina Larisa Koleva Larisa Koleva Nikita Kushnir Nikita Kushnir Anna Suvorova Fazoil Ataullakhanov Fazoil Ataullakhanov Fazoil Ataullakhanov An overview of hereditary spherocytosis and the curative effects of splenectomy Frontiers in Physiology hereditary spherocytosis gene mutations erythrocyte cytoskeleton erythrocyte deformability spherocytes microcirculation |
| title | An overview of hereditary spherocytosis and the curative effects of splenectomy |
| title_full | An overview of hereditary spherocytosis and the curative effects of splenectomy |
| title_fullStr | An overview of hereditary spherocytosis and the curative effects of splenectomy |
| title_full_unstemmed | An overview of hereditary spherocytosis and the curative effects of splenectomy |
| title_short | An overview of hereditary spherocytosis and the curative effects of splenectomy |
| title_sort | overview of hereditary spherocytosis and the curative effects of splenectomy |
| topic | hereditary spherocytosis gene mutations erythrocyte cytoskeleton erythrocyte deformability spherocytes microcirculation |
| url | https://www.frontiersin.org/articles/10.3389/fphys.2025.1497588/full |
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