Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma

Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma

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 coagu...

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Bibliographic Details
Published in:Pediatric hematology oncology journal Vol. 2; no. 3; pp. 68 - 70
Main Authors: Malbora, Baris, Kirbiyik, Ozgur
Format: Journal Article
Language:English
Published: Elsevier B.V 01-10-2017
Elsevier
Subjects:
Female
Hemophilia A carrier
Novel mutation
Prematurity
Psoas hematoma
Psoas hematoma
Female
Prematurity
Hemophilia A carrier
Novel mutation
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Description
Summary: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.
ISSN:2468-1245
2468-1245
DOI:10.1016/j.phoj.2017.09.001