Congenital sideroblastic anaemia
A 24-year-old male born out of a consanguineous marriage presented with a long-standing history of microcytic anaemia. He was treated elsewhere for the same with haematinics and packed red cell transfusions and had not shown improvement. Mild pallor and splenomegaly were noted on examination. After...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Journal of Clinical and Scientific Research |
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| Online Access: | https://journals.lww.com/10.4103/jcsr.jcsr_198_23 |
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| author | Kavya Sree Velchuri Mallikarjuna Shetty Adiraju Krishna Prasad Purna Surya Kiran Pentakota |
| author_facet | Kavya Sree Velchuri Mallikarjuna Shetty Adiraju Krishna Prasad Purna Surya Kiran Pentakota |
| author_sort | Kavya Sree Velchuri |
| collection | DOAJ |
| description | A 24-year-old male born out of a consanguineous marriage presented with a long-standing history of microcytic anaemia. He was treated elsewhere for the same with haematinics and packed red cell transfusions and had not shown improvement. Mild pallor and splenomegaly were noted on examination. After excluding other causes of microcytic anaemias bone marrow study was done. It revealed megaloblastoid erythropoiesis and ring sideroblasts. Genetic analysis showed a known homozygotic mutation in the solute carrier family 25 member 38 (SLC25A38) gene that causes autosomal recessive sideroblastic anaemia (SBA). |
| format | Article |
| id | doaj-art-44eef928ff0540699151738a534a3b2f |
| institution | Kabale University |
| issn | 2277-5706 2277-8357 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Clinical and Scientific Research |
| spelling | doaj-art-44eef928ff0540699151738a534a3b2f2025-01-11T09:47:07ZengWolters Kluwer Medknow PublicationsJournal of Clinical and Scientific Research2277-57062277-83572024-12-0113Suppl 1S65S6710.4103/jcsr.jcsr_198_23Congenital sideroblastic anaemiaKavya Sree VelchuriMallikarjuna ShettyAdiraju Krishna PrasadPurna Surya Kiran PentakotaA 24-year-old male born out of a consanguineous marriage presented with a long-standing history of microcytic anaemia. He was treated elsewhere for the same with haematinics and packed red cell transfusions and had not shown improvement. Mild pallor and splenomegaly were noted on examination. After excluding other causes of microcytic anaemias bone marrow study was done. It revealed megaloblastoid erythropoiesis and ring sideroblasts. Genetic analysis showed a known homozygotic mutation in the solute carrier family 25 member 38 (SLC25A38) gene that causes autosomal recessive sideroblastic anaemia (SBA).https://journals.lww.com/10.4103/jcsr.jcsr_198_23congenital sideroblastic anaemiaringed sideroblastssolute carrier family 25 member 38 mutation |
| spellingShingle | Kavya Sree Velchuri Mallikarjuna Shetty Adiraju Krishna Prasad Purna Surya Kiran Pentakota Congenital sideroblastic anaemia Journal of Clinical and Scientific Research congenital sideroblastic anaemia ringed sideroblasts solute carrier family 25 member 38 mutation |
| title | Congenital sideroblastic anaemia |
| title_full | Congenital sideroblastic anaemia |
| title_fullStr | Congenital sideroblastic anaemia |
| title_full_unstemmed | Congenital sideroblastic anaemia |
| title_short | Congenital sideroblastic anaemia |
| title_sort | congenital sideroblastic anaemia |
| topic | congenital sideroblastic anaemia ringed sideroblasts solute carrier family 25 member 38 mutation |
| url | https://journals.lww.com/10.4103/jcsr.jcsr_198_23 |
| work_keys_str_mv | AT kavyasreevelchuri congenitalsideroblasticanaemia AT mallikarjunashetty congenitalsideroblasticanaemia AT adirajukrishnaprasad congenitalsideroblasticanaemia AT purnasuryakiranpentakota congenitalsideroblasticanaemia |