KEGG   DISEASE: Fetomaternal alloimmune thrombocytopenia
Entry
H02979                      Disease                                
Name
Fetomaternal alloimmune thrombocytopenia;
Neonatal alloimmune thrombocytopenia
Description
Fetomaternal alloimmune thrombocytopenia (FMAIT), also known as neonatal alloimmune thrombocytopenia (NAIT), is a relatively uncommon disease, but is the leading cause of severe thrombocytopenia in the newborn. Neonatal intracranial hemorrhage is a severe complication of this disease, resulting in irreversible damage to cranial nerves and potential neonatal death. It has been reported that FMAIT is caused by maternal alloantibodies against paternally-inherited platelet antigens, most frequently HPA-1a on integrin beta 3. Many other antibodies have been identified, but are rare.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B64  Thrombocytopenia
    H02979  Fetomaternal alloimmune thrombocytopenia
Gene
(FMAIT1) ITGB3 [HSA:3690] [KO:K06493]
(FMAIT2) ITGA2B [HSA:3674] [KO:K06476]
(FMAIT3) ITGA2 [HSA:3673] [KO:K06481]
Other DBs
ICD-11: 3B64.13
OMIM: 621264 621266 621267
Reference
PMID:31859394 (FMAIT1)
  Authors
Holzwarth ST, Strobel J, Cooper N, Leyh J, Bayat B, Bein G, Zingsem J, Sachs UJ
  Title
A point mutation c.473A > G of ITGB3 is responsible for the formation of the Wo(a) human platelet alloantigen.
  Journal
Transfusion 60:E5-E6 (2020)
DOI:10.1111/trf.15640
Reference
PMID:36581513 (FMAIT2)
  Authors
Stam W, Wachholz GE, de Pereda JM, Kapur R, van der Schoot E, Margadant C
  Title
Fetal and neonatal alloimmune thrombocytopenia: Current pathophysiological insights and perspectives for future diagnostics and treatment.
  Journal
Blood Rev 59:101038 (2023)
DOI:10.1016/j.blre.2022.101038
Reference
PMID:10590055 (FMAIT3)
  Authors
Santoso S, Amrhein J, Hofmann HA, Sachs UJ, Walka MM, Kroll H, Kiefel V
  Title
A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation.
  Journal
Blood 94:4103-11 (1999)
Reference
  Authors
Espinoza JP, Caradeux J, Norwitz ER, Illanes SE
  Title
Fetal and neonatal alloimmune thrombocytopenia.
  Journal
Rev Obstet Gynecol 6:e15-21 (2013)
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