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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Elsevier,
2017-10-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_ea981ca7c5c74b0ebb0d8b1cfd0b85c8 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Baris Malbora |e author |
| 700 | 1 | 0 | |a Ozgur Kirbiyik |e author |
| 245 | 0 | 0 | |a Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma |
| 260 | |b Elsevier, |c 2017-10-01T00:00:00Z. | ||
| 500 | |a 2468-1245 | ||
| 500 | |a 10.1016/j.phoj.2017.09.001 | ||
| 520 | |a 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 | ||
| 546 | |a EN | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Pediatric Hematology Oncology Journal, Vol 2, Iss 3, Pp 68-70 (2017) | |
| 787 | 0 | |n http://www.sciencedirect.com/science/article/pii/S2468124517300645 | |
| 787 | 0 | |n https://doaj.org/toc/2468-1245 | |
| 856 | 4 | 1 | |u https://doaj.org/article/ea981ca7c5c74b0ebb0d8b1cfd0b85c8 |z Connect to this object online. |