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Bleeding disorders often present with different degrees of severity, ranging from very mild to very severe. Clinical presentation is not always correlated with the grade of the molecular defect and the disruption it causes to the gene/s in question. This is especially true for circulating coagulation factor deficiencies where even 1-2 % difference between levels of the deficient factor may result in significant variations in the clinical presentation. It is often the case that the residual level of factor does not serve as a reliable predictor of the clinical course in the particular patient. This is related to a number of reasons, including timing and accuracy of level measurement, antigenic properties/activity ratio of the deficient factor, nature of the molecular defect, presence of factors augmenting or alleviating the bleeding tendency (such as antibodies to the deficient factor, co-inherited prothrombotic risk factors, etc.). Therefore, prognostication of disease course in young children and for the possibility of recurrence of the bleeding phenotype in the family could present quite a challenge to the genetic counselor. Nevertheless, this aspect of disease coping is very important to the family undergoing genetic counseling for haemophilia as it might influence their motivation for seeking adequate therapy and trying novel treatments, might induce overprotectiveness towards the affected child and most definitely could modify the family’s future reproductive plans (having one ill child and a grim perspective for the disease course usually does not encourage having more children). The ability to answer the questions of the parents about the prospective course of the disease with an acceptable degree of reliability is a crucial component of genetic counseling for haemophilia and requires gathering and processing a lot of information in order to produce a reliable image of what could be expected and what could be avoided.

From Genotype to Phenotype - When the Parents Ask the Question