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Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Hemophilia A: Protein structure of coagulation factor VIII, of which its deficiency is the cause of haemophilia A. Specialty: Haematology: Symptoms: Prolonged bleeding from common injuries [1] Causes: Factor VIII deficiency [2] Diagnostic method: Bleeding time, [2] coagulation screen, genetic testing: Prevention: Hepatitis B vaccine should be ...
The data takes Pfizer one step closer to securing U.S. regulatory approval for a second gene therapy to treat hemophilia. Pfizer had received the Food and Drug Administration's nod for Beqvez as a ...
[3] There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [6] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder. [7]
Genetic disorders of RBC membrane Hereditary spherocytosis; Hereditary elliptocytosis; Congenital dyserythropoietic anemia; Genetic disorders of RBC metabolism Glucose-6-phosphate dehydrogenase deficiency (G6PD) Pyruvate kinase deficiency; Immune mediated hemolytic anemia (direct Coombs test is positive) Autoimmune hemolytic anemia
Because factor XI helps sustain the fibrin clot in the intrinsic clotting pathway and combat fibrinolysis, a deficiency in this factor contributes to abnormal bleeding patterns; however, the amount of excessive bleeding is variable among those with haemophilia C. [7] Furthermore, it has autosomal recessive inheritance, since the gene for factor ...
Factor IX (EC 3.4.21.22), also known as Christmas factor, is one of the serine proteases involved in coagulation; it belongs to peptidase family S1. Deficiency of this protein causes haemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to haemophilia. [5]
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