Hereditary spherocytosis

Question 1

What is hereditary spherocytosis?

Answer 1

Hereditary spherocytosis is a condition where the red blood cells are sphere shaped, making them fragile and easily destroyed when passing through the spleen. It is the most common inherited haemolytic anaemia in northern Europeans. It is an autosomal dominant condition.

Question 2

Presentation hereditary spherocytosis?

Answer 2

Hereditary spherocytosis presents with:

Jaundice
Anaemia
Gallstones
Splenomegaly

Patients can have episodes of haemolytic crisis, often triggered by infections, where the haemolysis, anaemia and jaundice is more significant.

Question 3

Complications hereditary spherocytosis?

Answer 3

Patients can have episodes of haemolytic crisis, often triggered by infections, where the haemolysis, anaemia and jaundice is more significant.

Patients with hereditary spherocytosis can develop aplastic crisis. During aplastic crisis there is increased anaemia, haemolysis and jaundice, without the normal response from the bone marrow of creating new red blood cells. Usually the bone marrow will respond to haemolysis by producing red blood cells faster, demonstrated by extra reticulocytes (immature red blood cells) in the blood. In aplastic crisis there is no reticulocyte response. This is often triggered by infection with parvovirus.

TOM TIP: Infection with parvovirus causing aplastic crisis is a classic exam features of hereditary spherocytosis. It is worth remembering this connection, as there are multiple ways examiners like to ask this. A patient with spherocytosis may present with anaemia and you could be asked to identify the causative infectious agent. Alternatively, someone affected by parvovirus could develop anaemia and jaundice and you may be asked the underlying diagnosis.

Question 4

Diagnosis of hereditary spherocytosis?

Answer 4

Hereditary spherocytosis is diagnosed by family history and clinical features, along with spherocytes on the blood film. The mean corpuscular haemoglobin concentration (MCHC) is raised on a full blood count. Reticulocytes will be raised due to rapid turnover of red blood cells.

Question 5

Management of hereditary spherocytosis?

Answer 5

Treatment is with folate supplementation and splenectomy. Removal of the gallbladder (cholecystectomy) may be required if gallstones are a problem. Transfusions may be required during acute crises.

Question 6

Hereditary elliptocytosis?

Answer 6

Hereditary elliptocytosis is very similar to hereditary spherocytosis except that the red blood cells are ellipse shaped. It is also autosomal dominant. Presentation and management are very similar.