The definition of a carrier in relation to genetics is an “individual who is heterozygous for a

recessive gene and thus does not express the recessive phenotype but can transmit it to
offspring.” Until recently, all women with the haemophilia gene were described as “carriers”
and those with bleeding symptoms were known as “symptomatic carriers.” It has long been
recognized many women with the haemophilia gene have bleeding symptoms and that the
severity of prevalence of symptoms is related to the clotting factor level and that even female
carriers with clotting factors between 40%-60% reported more bleeding symptoms than non-
carriers in families. In 2012, the World Federation of Haemophilia (WFH) updated its
definitions of haemophilia stating that haemophilia occurs in males or females as with severity
related to the clotting factor level: mild haemophilia is someone who has clotting factor levels
of 5%-40% of the normal amount, moderate haemophilia someone with levels 1%-5% normal
and severe haemophilia someone with levels <1% normal. It recommends the use of the term
“symptomatic carrier” to be a woman with factor levels of 40%-60%.
The most recent Annual Global Survey from the WFH reports a total of 295.866 people with
bleeding disorders have been identified in 113 countries worldwide6 with almost 185.000
people with haemophilia A or B. It has been estimated that for every 100 males with
haemophilia there will be 277 female family members— mothers, aunts, sisters, or daughters
who may have the haemophilia gene and require counselling and testing, although only 156
will be true somatic carriers. This translates to almost 500.000 women globally who should be
assessed regarding their haemophilia status.

Sumber : McLintock C. Women in bleeding disorders: clinical and physiological issues.

Haemophilia: 2018; 24(6):22-28.