Rare within Rare: A Girl with Severe Haemophilia A and Turner Syndrome.
Isochromosome Xq
Turner syndrome
severe haemophilia A in female
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
30 Nov 2023
30 Nov 2023
Historique:
received:
30
10
2023
revised:
25
11
2023
accepted:
27
11
2023
medline:
9
12
2023
pubmed:
9
12
2023
entrez:
9
12
2023
Statut:
epublish
Résumé
A coincidental occurrence of severe haemophilia A and Turner syndrome in a female person is extremely rare (less than 10 cases published). In such challenging cases, a multidisciplinary approach based on medicine of precision with full access to genetic and bio-molecular exploration is indispensable. The article presents an eight-year-old girl, with a family history of haemophilia, without significant disease signs (only post-dental extraction bleeding and a shorter stature). Discordantly, however, the investigations revealed a challenging condition: a genotype of 46,X,i(Xq), with an Isochromosome Xq responsible for the Turner syndrome and simultaneously, for the detrimental transformation, interfering with X chromosome inactivation, of an obligate hemophilia carrier into a severe hemophilia case-two distinct and provocative diseases.
Identifiants
pubmed: 38068488
pii: jcm12237437
doi: 10.3390/jcm12237437
pmc: PMC10707082
pii:
doi:
Types de publication
Journal Article
Langues
eng
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