X-linked sideroblastic anemia and spinocerebellar ataxia explained

X-linked sideroblastic anemia and spinocerebellar ataxia
Synonym:	-->
Symptoms:	Sideroblastic anemia and spinocerebellar ataxia inherited in an X-linked recessive manner
Cause:	-->
Risk:	-->
Prevention:	none
Management:	-->
Frequency:	very rare, 4 families have been described in medical literature
Deaths:	-

X-linked sideroblastic anemia and spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either doesn't progress or does so very slowly.^{[1] [2]} Additional findings include dysarthria, tremors and eye movement anomalies.^[3] It is caused by X-linked recessive mutations in the ABCB7 gene in chromosome X.^[4] Only 4 families with the disorder have been described in medical literature.^{[5] [6] [7] [8]}

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: X linked sideroblastic anemia and spinocerebellar ataxia . 2022-06-11 . www.orpha.net . en.
2. Web site: Anemia sideroblastic and spinocerebellar ataxia - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-11 . rarediseases.info.nih.gov . en.
3. Web site: X-linked sideroblastic anemia and ataxia: MedlinePlus Genetics . 2022-06-11 . medlineplus.gov . en.
4. Allikmets . Rando . Raskind . Wendy H. . Hutchinson . Amy . Schueck . Nichole D. . Dean . Michael . Koeller . David M. . 1999-05-01 . Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A) . Human Molecular Genetics . 8 . 5 . 743–749 . 10.1093/hmg/8.5.743 . 10196363 . 0964-6906. free .
5. Web site: OMIM Entry - # 301310 - ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT . 2022-06-11 . omim.org . en-us.
6. Pagon . R. A. . Bird . T. D. . Detter . J. C. . Pierce . I. . 1985-08-01 . Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder . Journal of Medical Genetics . 22 . 4 . 267–273 . 10.1136/jmg.22.4.267 . 0022-2593 . 1049446 . 4045952.
7. Allikmets . R. . Raskind . W. H. . Hutchinson . A. . Schueck . N. D. . Dean . M. . Koeller . D. M. . 1999-05-01 . Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A) . Human Molecular Genetics . 8 . 5 . 743–749 . 10.1093/hmg/8.5.743 . 0964-6906 . 10196363. free .
8. Bekri . S. . Kispal . G. . Lange . H. . Fitzsimons . E. . Tolmie . J. . Lill . R. . Bishop . D. F. . 2000-11-01 . Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation . Blood . 96 . 9 . 3256–3264 . 10.1182/blood.V96.9.3256 . 0006-4971 . 11050011.