A RARE CASE OF HAEMOPHILIA-A IN A GIRL

Abstract

Evaluation of a 5 years old
girl who presented with hemarthrosis,
revealed Haemophilia-A. Many of her
male family members had a bleeding disorder,
presumably haemophilia-A. Her
fathers factor VIII levels were 1. Analysis
of the pedigree chart showed, she might
have inherited the disease from her parents,
father expressing the disease and
the mother being a carrier. Females can
manifest an X-linked recessive disease
as a consequence of four different phenomena
1. Two mutant genes, homozygous
or doubly heterozygous 2. One mutant
gene plus extreme or non-random X
chromosome inactivation (lyonisation), 3.
Mutant gene plus XY genotype manifesting
as a female and4. Chromosomal abnormality.
Consanguineous marriages
should be avoided in her family to prevent
further dissemination of the disease.
This case is presented for the rarity of Xlinked
recessive disease manifesting in a
female and to highlight the importance of
genetic counseling in a family with a hereditary
disease.