Variant of Factor IX Deficiency in Female with 45, X Turner’s Syndrome
نویسندگان
چکیده
منابع مشابه
Female factor IX deficiency due to maternally inherited X-inactivation.
X-chromosome inactivation is normally a random event that is regulated by the X chromosome itself. Rarely, females are affected by X-linked disorders from extremely skewed X-chromosome inactivation. Here, we report a family with hemophilia B with female expression through inherited X skewing that appears to be independent of either X chromosome. This finding suggests the possibility of a domina...
متن کاملHaemophilia B (Factor IX Deficiency)
If a woman is a carrier there is a 1 in 2 chance that any son will be affected and a 1 in 2 chance that any daughter will be a carrier. If a man with the disease fathers a child, any daughter will be a carrier and any son will be unaffected and will not carry the gene. There is a report of a daughter of a man with the disease who had a factor IX level of 5% and haemarthroses and this was though...
متن کاملRecurrent Venous Thromboembolic Events in a Child with Severe Factor X Deficiency
Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.
متن کاملFactor IX deficiency and bleeding in a patient with Sheehan's syndrome.
Factor IX deficiency was associated with a hemorrhagic disorder in a woman who previously had experienced postpartum hypotension resulting in Sheehan’s syndrome. There was no family history of Christmas disease, and other known causes of factor IX deficiency were excluded. Plasma levels of factor IX were partially corrected by therapy with thyroid hormones and completely restored to normal by t...
متن کاملAplastic anemia in a patient with factor IX deficiency.
Hepatitis associated aplastic anemia (HAAA) is a well documented entity. The disorder mainly affects children and young adults. Pancytopenia is usually noted within 2-6 months time after an acute attack of hepatitis. Most cases have been described in association with hepatitis A or hepatitis C Virus. The report describes, an unusual case of acquired aplastic anemia in a patient with hemophilia ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 1970
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v36.2.169.169