Hereditary spherocytosis

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at December 5, 2016
StartDiseasesHereditary spherocytosis

Hereditary spherocytosis is a blood disease that affects red blood cells. It causes anemia, jaundice, and an enlarged spleen (splenomegaly).


Definition & Facts

Hereditary spherocytosis adversely affects a person’s eyes, skin, and spleen. Spherocytes are globe-shaped red blood cells. Normal red blood cells are also circular, but they look more like a bowl. The abnormal shape of spherocytes prompts the spleen to remove them from the bloodstream. Once inside the spleen, the red blood cells are destroyed.

There are four types of hereditary spherocytosis: mild, moderate, moderate/severe, and severe. Medical experts estimate that more than half of individuals living with the condition have the moderate form of the disorder. Less than 10 percent of diagnosed individuals have the most severe form. Statistics show that one out of 2,000 individuals of people of Northern European lineage have this condition.

Symptoms & Complaints

Typical symptoms of hereditary spherocytosis include jaundice and an enlarged spleen. Jaundice is a condition that gives a yellowish tint to a person’s skin and the whites of his or her eyes.

Other symptoms include fatigue, mild to moderate pain in the upper left side of the abdomen, and increased susceptibility to viral infections. This condition may also cause abnormalities of the skeleton and short stature.


More than half of all cases of this condition are caused by genetic mutations of the ANK1 gene. This gene creates proteins that play an important role in the functioning and structure of red blood cells. The mutations result in misshapen, abnormally spherical red blood cells. In most cases, the mutations are inherited in an autosomal dominant inheritance pattern.

Jaundice among those with this condition is caused by excess bilirubin or reddish pigmentation, which is a byproduct of old red blood cells. It often occurs because their bodies try to replace spherocytes with normal red blood cells as quickly as possible. This, in turn, triggers the production of an excessive amount of bilirubin.

Bilirubin is filtered inside the liver and later excreted from the body as urine or stool. When a person’s body is unable to excrete excess bilirubin, the surplus migrates to other parts of the body and gradually changes the pigmentation of those areas.

Diagnosis & Tests

Health care specialists will typically examine their patients’ abdomens first to check for abdominal distension and abdominal pain caused by enlarged spleens, which can be an indicator of hereditary spherocytosis. A battery of blood tests will also be performed including a complete blood count. These tests will reveal both the quality and quantity of the patient’s red blood cells. For example, the shape of the cells will be studied to determine if they are normal or spherocytes.

Reticulocyte counts and mean corpuscular hemoglobin concentration are two blood tests that will be conducted. Bilirubin levels will also be measured because studies have shown that people living with hereditary spherocytosis often have higher levels of the substance, a condition called hyperbilirubinemia.

Treatment & Therapy

Currently, there is no cure for hereditary spherocytosis; however, some of its side effects can be significantly diminished or eliminated by having part or all of the spleen surgically removed. This procedure is referred to as a partial or full splenectomy. Splenectomies halt hemolysis or the destruction of red blood cells.

Children should not have a splenectomy performed until they are at least six years of age because of side effects. Children become more susceptible to blood infections following spleen removal surgery. Splenectomies can result in the immune system becoming compromised or weakened. This is why physicians advise patients to obtain necessary immunizations prior to and after undergoing splenectomies. These include vaccinations against flu and pneumococcal infections.

Blood transfusions are also a part of the treatment process. Because this condition causes gallstones, cholecystectomy may be advised, which is the removal of the gallbladder.

Prevention & Prophylaxis

Hereditary spherocytosis is a congenital disorder that cannot be prevented. Nevertheless, patients can adopt a number of methods to prevent complications.

Health care specialists will often advise their patients to take dietary supplements such as folic acid which can help build red blood cells. Used daily, these prevention methods can help strengthen an affected individual’s immune system.