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It occurs in males and in homozygous females (which is only possible in the daughters of a haemophilic male and a carrier or haemophiliac female [9]). However, mild haemophilia A is known to occur in heterozygous females due to X-inactivation , so it is recommended that levels of factor VIII and IX be measured in all known or potential carriers ...
Acquired haemophilia A (AHA) is a rare but potentially life-threatening bleeding disorder characterized by autoantibodies directed against coagulation factor VIII.These autoantibodies constitute the most common spontaneous inhibitor to any coagulation factor and may induce spontaneous bleeding in patients with no previous history of a bleeding disorder.
The second leading cause of death related to severe haemophilia complications is intracranial haemorrhage which today accounts for one third of all deaths of people with haemophilia. Two other major causes of death include hepatitis infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage.
No living member of the present or past reigning dynasties of Europe is known to have symptoms of haemophilia or is believed to carry the gene for it. The last descendant of Victoria known to have the disease was Infante Gonzalo, born in 1914, although hundreds of descendants of Queen Victoria's (including males descended only through females ...
The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components of hemoglobin. The two classification types of beta thalassemia are thalassemia major (also known as Cooley's anemia) and thalassemia intermedia.
2157 14069 Ensembl ENSG00000185010 ENSMUSG00000031196 UniProt P00451 Q06194 RefSeq (mRNA) NM_000132 NM_019863 NM_001161373 NM_001161374 NM_007977 RefSeq (protein) NP_000123 NP_063916 NP_001154845 NP_001154846 NP_032003 Location (UCSC) Chr X: 154.84 – 155.03 Mb Chr X: 74.22 – 74.43 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor VIII (Factor VIII, FVIII, also ...
Tay–Sachs disease, which can present as a fatal illness of children that causes mental deterioration prior to death, was historically extremely common among Ashkenazi Jews, [19] with lower levels of the disease in some Pennsylvania Dutch, Italian, Irish Catholic, and French Canadian descent, especially those living in the Cajun community of ...
Hemoglobinopathies (congenital abnormality of the hemoglobin molecule or of the rate of hemoglobin synthesis) . Sickle cell disease; Thalassemia; Methemoglobinemia; Anemias (lack of red blood cells or hemoglobin)