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While severe and moderate haemophilia are rare in females, 16% of patients with mild haemophilia A and almost one\u2010quarter of those with mild haemophilia B seen in U.S. haemophilia treatment centres are women and girls. A phenotypic female with a low level of factor VIII or factor IX may be classified into one of the following categories of causality: homozygosity (two identical haemophilia alleles), compound heterozygosity (two different haemophilia alleles), hemizygosity (one haemophilia allele and no normal allele), heterozygosity (one haemophilia allele and one normal allele), genetic causes other than haemophilia and non\u2010genetic causes. Studies required for classification may include coagulation parameters, <jats:italic>F8<\/jats:italic> or <jats:italic>F9<\/jats:italic> sequencing, <jats:italic>F8<\/jats:italic> inversion testing, multiplex ligation\u2010dependent probe amplification, karyotyping and X chromosome inactivation studies performed on the patient and parents. Women and girls who are homozygous, compound heterozygous or hemizygous clearly have haemophilia, as they do not have a normal allele. Heterozygous women and girls with factor levels below the haemostatic range also meet the definitions used for haemophilia treatment.<\/jats:p>","DOI":"10.1111\/hae.14186","type":"journal-article","created":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T20:44:35Z","timestamp":1607892275000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":69,"title":["Genetic causes of haemophilia in women and girls"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3989-7973","authenticated-orcid":false,"given":"Connie H.","family":"Miller","sequence":"first","affiliation":[{"name":"Division of Blood Disorders National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7433-9769","authenticated-orcid":false,"given":"Christopher J.","family":"Bean","sequence":"additional","affiliation":[{"name":"Division of Blood Disorders National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhmas\/49.2.240"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)92678-9"},{"issue":"79","key":"e_1_2_9_4_1","first-page":"299","article-title":"The occurrence of haemophilia in the human female","volume":"20","author":"Merskey C","year":"1951","journal-title":"Q J Med"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(57)91945-1"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982403"},{"key":"e_1_2_9_7_1","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X\u2010chromosome","volume":"14","author":"Lyon MF","year":"1962","journal-title":"Am J Hum Genet"},{"issue":"3","key":"e_1_2_9_8_1","first-page":"175","article-title":"The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B","volume":"20","author":"Barrai I","year":"1968","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_9_1","unstructured":"Centers for Disease Control and Prevention Hemophilia A Mutation Project (CHAMP).2020.https:\/\/www.cdc.gov\/ncbddd\/hemophilia\/champs.html"},{"key":"e_1_2_9_10_1","unstructured":"Centers for Disease Control and Prevention Hemophilia B Mutation Project (CHBMP).2020.https:\/\/www.cdc.gov\/ncbddd\/hemophilia\/champs.html"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1564800"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195301000-00008"},{"issue":"6","key":"e_1_2_9_13_1","first-page":"936","article-title":"A study of the carrier state for plasma thromboplastin component (PTC, christmas factor) deficiency, utilizing a new assay procedure","volume":"55","author":"Barrow EM","year":"1960","journal-title":"J Lab Clin Med"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1974.54.1.23"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"issue":"1","key":"e_1_2_9_16_1","first-page":"8","article-title":"The William Allan Memorial Award Address: X\u2010chromosome inactivation and the location and expression of X\u2010linked genes","volume":"42","author":"Lyon MF","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09872"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2987"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/349038a0"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90520-M"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-120116-024611"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/507565"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.163.3871.1078"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0030116"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.25076"},{"key":"e_1_2_9_26_1","unstructured":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention. 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