If the mother is a hemophilia carrier,there is a chance that the baby will be born with hemophilia. In families with a known history of hemophilia, or in those with a prenatal genetic diagnosis of hemophilia, one can plan special testing for hemophilia before the baby's delivery. What is ...
BackgroundAcquired hemophilia A (AHA) is an uncommon coagulation disorder caused by the development of autoantibodies against coagulation factor VIII (FVIII). While intracranial hemorrhage is a known complication of AHA, intracranial hemorrhage as the presenting manifestation of AHA has only been ...
BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that an individual in Germany with severe hemophilia A was treated with ROCTAVIAN® (valoctocogene roxaparvovec-rvox), marking the first time that the gene therapy has been...
Orsini Specialty Pharmacy, a leading independent specialty pharmacy focused on rare diseases and gene therapies, was selected by CSL Behring https://www.gilead.com/ as a limited distribution partner for HEMGENIX® (etranacogene...
In someone without a known bee allergy, watch for signs of an allergy while you’re performing first aid: Get the stinger outimmediately. This will prevent additional venom from getting into the person. To remove a stinger, it is best to use a straight-edged object such as a credit card...
Nutritional management for individuals with hematological disease must be individualized, respecting the specifics of each case and, with the aim of preventing or reversing the decline in nutritional status, as well as preventing progression to severe malnutrition or cachexia, in addition to improving ...
First in his doctoral dissertation of 190312 and in a sub- sequent publication,13 he is credited with the first interpretation of a human trait as a Mendelian dominant. To complete the Mendelian triad of inheritance patterns, red- green color blindness had long been known to affect primarily ...
FACTOR IX participates in the middle phase of the intrinsic as well as the extrinsic clotting cascade.1 Absence or reduced activity of factor IX causes an X-linked bleeding disorder commonly known as hemophilia-B. It is a multidomain glycoprotein and is synthesized in the liver as a precursor...
Two families were known to be consanguineous because of marriages between first cousins (Additional file 1 Figure S1). Signed, informed consent was obtained from each patient and each family member. Common diagnostic criteria were: congenital ichthyosiform erythroderma characterized by fine scales on ...
Specific diagnoses of single gene defects are carried out by using polymerase chain reaction (PCR) to amplify the region of DNA containing a known genetic defect, followed by mutation detection to identify size and/or sequence changes within the PCR product. Treatment for a growing number of ...