Hemophilia in a newborn without family history: A case report
Haemophilia is the most frequent diagnosed inborn clotting factor deficiency in newborn. Studies reveal that majority of hemophilia A cases are due to an inversion of the long arm of X-chromosome. Newborns with hemophilia are at risk of intracranial and extracranial hemorrhage, and other bleeding c...
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| Format: | Article |
| Language: | English |
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Bangabandhu Sheikh Mujib Medical University
2023-04-01
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| Series: | Bangabandhu Sheikh Mujib Medical University Journal |
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| Online Access: | https://banglajol.info/index.php/BSMMUJ/article/view/65670 |
| _version_ | 1797844760543625216 |
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| author | Shahana Akter |
| author_facet | Shahana Akter |
| author_sort | Shahana Akter |
| collection | DOAJ |
| description |
Haemophilia is the most frequent diagnosed inborn clotting factor deficiency in newborn. Studies reveal that majority of hemophilia A cases are due to an inversion of the long arm of X-chromosome. Newborns with hemophilia are at risk of intracranial and extracranial hemorrhage, and other bleeding complications. Diagnostic criteria for haemophilia include confirmation of a factor activity level below 40% of normal (below 0.40 IU/mL), or a hemophilia gene mutation. Haemophilia typically result in an isolated prolongation of the activated partial thromboplastin time. However, the definitive diagnosis requires measurement of factors VIII and IX levels. Here, we describe a newborn with cephalhematoma gastrointestinal bleeding that is the manifestation of neonatal haemophilia with antenatally diagnosed duodenal atresia and there is no positive family history. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained bleeding.
Bangabandhu Sheikh Mujib Medical University Journal 2023;16(1): 62-65
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| first_indexed | 2024-04-09T17:28:34Z |
| format | Article |
| id | doaj.art-c92ba900d1bd4cb7a12151d8e0d5f3ed |
| institution | Directory Open Access Journal |
| issn | 2074-2908 2224-7750 |
| language | English |
| last_indexed | 2024-04-09T17:28:34Z |
| publishDate | 2023-04-01 |
| publisher | Bangabandhu Sheikh Mujib Medical University |
| record_format | Article |
| series | Bangabandhu Sheikh Mujib Medical University Journal |
| spelling | doaj.art-c92ba900d1bd4cb7a12151d8e0d5f3ed2023-04-18T10:01:00ZengBangabandhu Sheikh Mujib Medical UniversityBangabandhu Sheikh Mujib Medical University Journal2074-29082224-77502023-04-01161Hemophilia in a newborn without family history: A case reportShahana Akter0Department of Neonatology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh Haemophilia is the most frequent diagnosed inborn clotting factor deficiency in newborn. Studies reveal that majority of hemophilia A cases are due to an inversion of the long arm of X-chromosome. Newborns with hemophilia are at risk of intracranial and extracranial hemorrhage, and other bleeding complications. Diagnostic criteria for haemophilia include confirmation of a factor activity level below 40% of normal (below 0.40 IU/mL), or a hemophilia gene mutation. Haemophilia typically result in an isolated prolongation of the activated partial thromboplastin time. However, the definitive diagnosis requires measurement of factors VIII and IX levels. Here, we describe a newborn with cephalhematoma gastrointestinal bleeding that is the manifestation of neonatal haemophilia with antenatally diagnosed duodenal atresia and there is no positive family history. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained bleeding. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(1): 62-65 https://banglajol.info/index.php/BSMMUJ/article/view/65670haemophilia, cephalhematoma, gastrointestinal bleeding, dudenal atresia |
| spellingShingle | Shahana Akter Hemophilia in a newborn without family history: A case report Bangabandhu Sheikh Mujib Medical University Journal haemophilia, cephalhematoma, gastrointestinal bleeding, dudenal atresia |
| title | Hemophilia in a newborn without family history: A case report |
| title_full | Hemophilia in a newborn without family history: A case report |
| title_fullStr | Hemophilia in a newborn without family history: A case report |
| title_full_unstemmed | Hemophilia in a newborn without family history: A case report |
| title_short | Hemophilia in a newborn without family history: A case report |
| title_sort | hemophilia in a newborn without family history a case report |
| topic | haemophilia, cephalhematoma, gastrointestinal bleeding, dudenal atresia |
| url | https://banglajol.info/index.php/BSMMUJ/article/view/65670 |
| work_keys_str_mv | AT shahanaakter hemophiliainanewbornwithoutfamilyhistoryacasereport |