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Molecular characterization of hemophilia B patients in Colombia.

08:00 EDT 10th March 2020 | BioPortfolio

Summary of "Molecular characterization of hemophilia B patients in Colombia."

Hemophilia B (HB) is a coagulation disorder with an X-linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high-cost disease, with 362 males reported in 2017.

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This article was published in the following journal.

Name: Molecular genetics & genomic medicine
ISSN: 2324-9269
Pages: e1210

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Medical and Biotech [MESH] Definitions

A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)

The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.

Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.

A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.

The genetic constitution of the individual; the characterization of the genes.

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