Professional Help Essential for Parents Telling Daughters of Hemophilia Carrier Risk, Study Reports

An interview-based study from Japan found professional support was necessary when mothers inform their daughters they might be carriers for hemophilia, as the women found themselves “not knowing what to do” and expressing “anxiety due to uncertainty.”

In Japan, parents are often responsible for telling a child that a genetic disease like hemophilia runs in the family, and the risks associated with it.

The study “Mothers’ intentions and behaviours regarding providing risk communication to their daughters about their possibility of being haemophilia carriers: A qualitative study” was published in the journal Haemophilia.

Hemophilia is caused by mutations in genes encoding for the blood clotting factors (factor VIII and factor IX) that are located on the X chromosome. Girls have two X chromosomes, while boys have only one. As a result, boys with a disease-causing mutation on their X chromosome will have hemophilia.

Females with one mutated X chromosome may not develop the disease if the second X chromosome contains a healthy version of the gene. Instead, they are carriers for hemophilia.

Most will have the usual blood levels of the affected coagulation factor, which is required for normal blood clotting, and so may be unaware of their carrier status.

But in some cases low levels of the coagulation factor are found in female carriers, and they may develop such hemophilia symptoms as uncontrolled bleeding. Bleeding can be especially dangerous during childbirth, to both the mother and the child, and knowledge of carrier status is important to ensuring a safe delivery.

Still, “explaining hereditary disorders can place a heavy psychological burden on both the parents and the children because of the fact that having children may pass a pathogenic [disease causing] gene on to the next generation,” the researchers wrote.

The team looked into how well mothers communicated the possibility of being a hemophilia carrier to their daughters.

Interviews were carried out with 20 women: 14 mothers who had already spoken with their daughters, five who had not yet but intended to, and one mother who did not intend to tell her daughter of her carrier risk. Their 27 daughters had either a father or a brother with hemophilia.

The study assessed the mothers’ intentions and reasons for communicating carrier risk, and the issues faced in Japan. Some mothers who already had this conversation were not troubled by the experience, while others spoke of psychological difficulties.

Among the challenges cited by mothers who had not yet spoken with their daughters was “not knowing what to do,” including being unclear on the best way of approaching the conversation or choosing the best time based on the girl’s maturity, and difficulties in explaining the genetics of hemophilia. Others expressed “anxiety due to uncertainty” about their daughters’ reactions.

They felt a need to consult an expert, and for genetic counseling that would enable better explanations of how hemophilia develops and is passed along generations.  Healthcare professionals could also provide advice that would ease the psychological burden of parents, explaining when and how a talk about carrier risk should be given to a child.

“This study revealed a need for support for parents experiencing difficulties with informing their daughters of their possibility of being HCs [hemophilia carriers],” the researchers wrote.

They felt such professional aid was particularly important because only one mother — who had a traumatic experience during childbirth — was unwilling to have this conversation.

“Our findings were consistent with a [previous] report … which found that parents wanted to convey information for the benefit of their children,” the researchers concluded, but “express difficulties providing information regarding heredity to their children through open communication.

“To reduce the burden of RC [carrier risk communication], healthcare professionals can provide advice to address these concerns to parents who have daughters who may be HCs.”