Genetic Counseling

As for other recessive coagulation disorders, consanguineous marriage often explains the presence of homozygous mutations in symptomatic patients. In some cases, compound heterozygotes have been reported. Patients who are severely deficient in FX are severe bleeders and require frequent FX replacement therapy.[8] Therefore, prenatal diagnosis should be performed in pregnant women with at least one family member affected by this coagulation disorder. Knowledge of the underlying mutation is therefore essential to achieve this goal.

556delC Horn Het

1344G>C Horn Het

1258G>A Horn Het

1169G>T Horn Het

1120T>C Horn Het

871C>T Horn Het

Fig. 4 Conformation sensitive gel electrophoresis of PCR amplification of FX exons 6 and 8. Each picture shows a FX mutation confirmed by gene sequencing. Hom=homoduplex; Het=heteroduplex. (From Ref. [20].)
Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment