HEREDITARY

SPHEROCYTOSIS
DR NAING NAING OO
SENIOR LECTURER
AETIOLOGY & PATHOPHYSIOLOGY

• Caused by mutation in the genes of the protein of red cells membrane (mainly spectrin,
ankyrin, or band 3).
• The loss of membrane surface area without a proportional loss of cell volume causes sphering
of the RBCs.
• Spherocytic RBCs are destroyed prematurely in the spleen. (Splenectomy markedly improves
RBC life span and cures anaemia.
MODE OF INHERITANCE

• Autosomal dominant (mostly), variable expression

CLINICAL FEATURES
• May be a cause of haemolytic disease in the newborn and can manifest as anaemia and hyper-
bilirubinaemia sufficiently severe to require phototherapy or exchange transfusion.
• Haemolysis is more prominent in newborn because of HbF.
• Mild: asymptomatic into adulthood.
• Severe: marked pallor and jaundice
fatigue and exercise intolerance
facial changes but less extent than in Thalassaemia major
usually enlarged spleen after infancy
pigmentary gall stone (as early as 4-5 year)
• Susceptible to aplastic crisis, primarily by parvovirus B19 infection  profound anaemia, high
output heart failure (is due to severe anemia / hyperdynamic conditions), circulatory collapse
and death.
• Complications: pigment gallstone
Splenic infarct
Aplastic crisis Hypersplenism
gout Gallstones
Myopathy
myopathy Aplastic crisis
spinocerebellar degenerations
LABORATORY FINDINGS
FBC
• Hb reduced with reduced or normal MCV
• MCHC -- increased
• High reticulocytes and spherocytes (depends on severity of disease) on peripheral blood film
• Spherocytes are smaller in diameter and appear hyperchromic as a result of high haemoglobin
concentration.

Bone marrow
• Erythroid hyperplasia
 Diagnostic test
• Osmotic fragility test positive:
increased red cell lysis in hypotonic
solution
TREATMENT

Folic acid
• 1 mg daily
Blood Transfusion if severe
Splenectomy
• To reduce haemolysis
• Possibility of traumatic rupture
• Delayed until 5 year of age because of overwhelming sepsis
• Precaution prior to surgery: Pneumovax and HiB vaccine and
then life-long Penicillin prophylaxis after splenectomy
REFERENCE

1. Nelson Textbook of Paediatrics, 19th edition, Kliegman, Stanton, et al.

2. Illustrated Textbook of Paediatrics, 4th edition, Lissauer, Clayden
3. Concise Paediatrics, 2nd edition, Rachel Sidwel
4. Paediatric Exams: A survival guide, 2nd edition, Paul Gason