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Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma
- Source :
- Pediatric Hematology Oncology Journal, Vol 2, Iss 3, Pp 68-70 (2017)
- Publication Year :
- 2017
- Publisher :
- Elsevier, 2017.
-
Abstract
- Hemophilia A is an X-linked recessive disorder characterized by congenital deficiency of factor VIII. Mostly, males are affected. Cases of hemophilia A are unusual in females but can result from certain genetic mechanisms. The severity of bleeding in hemophilia is generally correlated with the coagulation factor level. In mild hemophilic cases or carriers, bleeding is not usually seen and may occur following trauma or surgery. In this report, we present a female premature newborn with psoas hematoma having a novel heterozygous missense mutation for hemophilia A. Keywords: Hemophilia A carrier, Novel mutation, Prematurity, Female, Psoas hematoma
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
030204 cardiovascular system & hematology
030105 genetics & heredity
Gastroenterology
Congenital deficiency
03 medical and health sciences
0302 clinical medicine
Hematoma
Internal medicine
hemic and lymphatic diseases
medicine
Missense mutation
Hemophilia A carrier
business.industry
lcsh:RJ1-570
Factor level
lcsh:Pediatrics
Hematology
medicine.disease
Surgery
Oncology
Coagulation
Premature newborn
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
business
Subjects
Details
- Language :
- English
- ISSN :
- 24681245
- Volume :
- 2
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Pediatric Hematology Oncology Journal
- Accession number :
- edsair.doi.dedup.....bc8bd392b4505153451ec8ca420de776