Manifestations abnormal enlargement of the spleen, is seen


Manifestations of typical disease are haemolysis with
anaemia, jaundice, reticulocytosis, gallstones, and splenomegaly, and
spherocytes on peripheral blood smear, increased erythrocyte osmotic fragility,
and a positive family history of disease. (3) Normally, members of
the same family with the disease share common symptoms.
                The
symptoms of Hereditary Spherocytosis vary with each of the four forms. Patients
may be asymptomatic or have severe haemolytic anaemia.  Patients with the mild form may have mild
anaemia or may be asymptomatic. Medical attention is only required later in
life and the condition may be uncovered by some environmental factors. Those
with severe HS may present as neonates. (4) Patients with moderate
HS typically present with anaemia, jaundice and splenomegaly. Patients with
severe HS are like those with the moderate form, however, they experience
severe anaemia. Gallstones are also a common symptom for HS sufferers.
                Typically,
the sympotms of HS will develop in early childhood, however, they can develop
at any age. The most common symptom in children with HS is anaemia.
                Splenomegaly,
the abnormal enlargement of the spleen, is seen in approximately half of the
cases involving younger children. The incidence increases to 75%-95% in older
children and adults. (5)

 

Inheritance

We Will Write a Custom Essay Specifically
For You For Only $13.90/page!


order now

                HS can be inherited in either an
autosomal recessive pattern or an autosomal dominant pattern. About 75% of
cases of hereditary spherocytosis are inherited in an autosomal
dominant manner. (6) In this case, the patient has mutations in
both of the genes in every cell. Homozygosity of dominant HS is thought to be
lethal. This type of HS is usually caused by nonsense mutations. These are
mutations that cause the absence of any normal protein.
                In
cases in which the disease is inherited in an autosomal recessive manner, both
parents have a copy of the mutated gene, however, they may be asymptomatic. The
inheritance of HS is recessive in only 10% to 15% of families. In these cases,
both parents have minor signs of the disease—usually only an increased osmotic
fragility in incubated blood or a slight reticulocytosis. (7)
                De
Novo mutations are frequently thought to be the cause of sporadic HS. In these
patients, neither parent carried the defective gene. In this case, the mutation
arises in a patient with no family history of the disease. The inheritance patterns
for these mutations may be unclear. (8)

 

 

 

 

Investigation/diagnosis

A number of laboratory methods are used to diagnose
hereditary spherocytosis. Hereditary spherocytosis is diagnosed based on a
combination of family and clinical histories, physical examination (for
splenomegaly or jaundice), and laboratory data (full blood count, especially
red blood cell indices and morphology, and reticulocyte count. (9)

x

Hi!
I'm William!

Would you like to get a custom essay? How about receiving a customized one?

Check it out