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Diagnosis of two related carriers of severe haemophilia B with no family history
Author(s) -
Lorenzo J. I.,
Casaña P.,
Espinós C.,
Ferrer R.,
Aznar J. A.
Publication year - 2000
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1046/j.1365-2516.2000.00389.x
Subject(s) - haemophilia b , haemophilia , proband , medicine , haemophilia a , family history , factor ix , genetic counseling , disease , pediatrics , coagulopathy , mutation , genetics , gene , biology
Haemophilia B is an X‐linked disease affecting 1 in 30 000 males. Carrier diagnosis is usually carried out only in female relatives of haemophilic males, and the likelihood of discovering a carrier without a haemophilic male is very low. In this report we present the cases of two related women without a family history of haemophilia who were diagnosed as haemophilia B carriers. Following a minor haemorrhage in the proband, she and her mother were thought to be haemophilia B carriers because of a low factor IX level (16 and 23 IU dL –1 , respectively; normal values >50 IU dL –1 ). The non‐sense mutation C31118T, which is associated with severe haemophilia B, was detected in both women. This allowed us to diagnose them as being definite carriers of severe haemophilia B and give appropriate genetic counselling.