Hereditary Spherocytosis P014

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ICD Coding

ICD-10-AM code:    D58.0

Brief description

Hereditary spherocytosis is an inherited condition resulting in spherically shaped red blood cells and leading to anaemia, enlargement of the spleen and jaundice.

Confirming the diagnosis

Specialist opinion will be required.  The diagnosis may be suspected based on a full blood count and peripheral blood smear (microscopy).  However, there are non-hereditary forms of spherocytosis than can show the same pattern.  An osmotic fragility test can help confirm the diagnosis.  Genetic testing may be indicated.

The relevant medical specialist is a haematologist.

Additional diagnoses that may be covered by these SOPs

• Familial haemolytic disorder

Conditions not covered by these SOPs

• Sickle cell disorder*
• Aplastic anaemia*

* another SOP applies

Clinical onset

Clinical features can include pallor (from anaemia), fatigue, jaundice and gallstones.   The clinical presentation can vary widely.  The first evidence of the condition may come from incidental/routine blood testing.  Clinical onset will be when symptoms, signs or laboratory evidence, subsequently confirmed by specialist opinion to be due to hereditary spherocytosis, first manifest.

Clinical worsening

Natural progression of the disease varies with the phenotype.  Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.

There is no specific treatment for his condition, but splenectomy is considered depending on the severity of the condition.

It is the nature of the clinical features of this disease to occur in episodes. As such, suffering an episode due to a military related activity is not an aggravation. The aggravation / permanent clinical worsening of any intermittent condition, requires that the frequency of the episodes be increased, the severity of the episodes be increased, or death occurs.

Further comments on diagnosis

This genetic disorder affects the shape of the red blood cell, leading to a loss of the normal biconcave shape, resulting in red cells being in the shape of spheres.

A spherical shape is not conducive to red blood cell passage through narrow blood vessels, leading to haemolysis of the blood cell and an anaemia (haemolytic anaemia).

The spleen, which regularly tests red blood cell quality, in this disorder will remove the abnormal cells from the blood stream, leading to an increase in the size of the spleen (splenomegaly) and a backlog of red blood cell waste products (bilirubin) leading to jaundice and gallstones.