Late-onset X-linked sideroblastic anemia following hemodialysis
| Autor: | Shigeru Sassa, Kazumichi Furuyama, Chiaki Kanda, Yoshifumi Maruyama, Shigeki Shibahara, Kazuko Miyaoka, Chiharu Kinoshita, Toshihiko Shimada, Hideo Harigae |
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| Rok vydání: | 2003 |
| Předmět: |
Male
medicine.medical_specialty medicine.medical_treatment DNA Mutational Analysis Immunology Nutritional Status Late onset Biology Biochemistry Gastroenterology Exon Sideroblastic anemia Renal Dialysis Internal medicine medicine Humans Point Mutation Age of Onset Aged Aged 80 and over Genetics Point mutation Pyridoxine Genetic Diseases X-Linked Exons Cell Biology Hematology medicine.disease ALAS2 Anemia Sideroblastic medicine.anatomical_structure Bone marrow Hemodialysis 5-Aminolevulinate Synthetase medicine.drug |
| Zdroj: | Blood. 101:4623-4624 |
| ISSN: | 1528-0020 0006-4971 |
| Popis: | X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. We identified a novel point mutation in the fifth exon of this patient's ALAS2 gene, which resulted in an amino acid change at residue 159 from aspartic acid to asparagine (Asp159Asn). In vitro analyses of recombinant Asp159Asn ALAS2 revealed that this mutation accounted for the pyridoxine-responsiveness of this disease. The very late onset in this case of XLSA emphasizes that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway. |
| Databáze: | OpenAIRE |
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