Sebastian Syndrome
| Classification according to ICD-10 | |
|---|---|
| D69.4 | Other primary thrombocytopenia |
| ICD-10 online (WHO version 2019) | |
The Sebastian syndrome is an extremely rare autosomal - dominant inherited disease . It is caused by a mutation in the MYH9 gene. Sebastian syndrome, along with Fechtner syndrome , Epstein syndrome and May-Hegglin anomaly, belongs to the group of MYH9-associated diseases.
Cause and genetics
The MYH9 gene affected by the mutation is located in humans on chromosome 22 gene locus q11.2. As a result of the gene mutation, the affected patients have macrothrombocytopenia , which is manifested by a lack of platelets (a so-called thrombocytopenia ) and oversized platelets with leukocyte inclusions , which are smaller than in the May-Heggelin anomaly. The disease is inherited in an autosomal dominant manner.
Epidemiology and Influence
It is estimated that around 50 people, or around ten families, are affected by Sebastian syndrome worldwide. Due to the rarity of the disease, no significant demographic trends can be identified. Men and women are obviously equally likely to get sick.
Symptoms
Those affected have a strong tendency to bleed noses and gums . Women with Sebastian syndrome have significantly heavier menstrual bleeding than healthy women.
therapy
Most patients with Sebastian syndrome do not need special treatment. After surgery, platelet transfusions may be necessary to prevent heavy bleeding.
forecast
In principle, patients with Sebastian syndrome have a normal life expectancy . The main danger for those affected is during operations or injuries due to the very slow blood clotting , which can lead to bleeding to death.
discovery
The Sebastian syndrome was first described in 1990 by Greinacher and others.
Individual evidence
- ↑ orpha.net: Sebastian Syndrome , accessed April 7, 2008.
- ↑ UCSC Genome Browser on Human Mar. 2006 Assembly: chr22: 35,007,273-35,113,958
- ↑ genome.ucsc.edu: Human Gene MYH9 (uc003apg.1) Description and Page Index
- ↑ a b c P. A. Johnson: Sebastian syndrome ( Memento of the original from April 19, 2008 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. In: Gale Encyclopedia of Genetic Disorders Part I. 2002.
- ^ A. Greinacher, C. Mueller-Eckhardt: Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. In: blood. 60/1990, pp. 53-60. PMID 2154271
literature
- DC Balderramo et al .: Sebastian syndrome: report of the first case in a South American family. In: Haematologica 88/2003, ECR17. PMID 12745286
- S. Deutsch et al: Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly / Fechtner syndrome. In: Blood 102/2003, pp. 529-534. PMID 12649151
- A. Greinacher et al .: Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. In: blood. 61/1990, pp. 282-288. PMID 2176899
- S. Kunishima et al: Mutations in the NMMHC-A Gene Cause Autosomal Dominant Macrothrombocytopenia with Leukocyte Inclusions (May-Hegglin Anomaly / Sebastian Syndrome). In: Blood. 2001, pp. 1147-1149.
- P. Mhaendung, S. Abdus: Inherited Giant Platelet Disorders: Classification and Literature Review. In: American Journal of Clinical Pathology 2000, pp. 176-190.
- N. Pujol-Moix et al .: Sebastian platelet syndrome In: Annals of Hematology. 62/1991, pp. 235-237.
- N. Pujol-Moix et al .: Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. In: Haematologica. 89/2004, pp. 330-337. PMID 15020273
- M. Di Pumpo et al .: Defective expression of GPIb / IX / V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. In: Haematologica. 87/2002, pp. 943-947. PMID 12217806
- M. Saito et al: Hematological abnormalities in a patient with a 22q11.2 deletion. In: Brain Dev. 26/2004, pp. 342-344. PMID 15165677
- M. Seri et al: Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin / Fechtner Syndrome Consortium. In: Nature Genetics . 26/2000, pp. 103-105. PMID 10973259
- M. Seri et al: MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. In: Medicine (Baltimore). 82/2003, pp. 203-215. PMID 12792306
- G. Young et al .: Sebastian syndrome: Case report and review of the literature. In: American Journal of Hematology 61/1999, pp. 62-65.
