Heart and Blood Conditions

Hereditary Spherocytosis Symptoms and Diagnosis

Symptoms of Hereditary Spherocytosis

The symptoms of spherocytosis are minor in some children, but for most children with this condition it is more serious. First they may get these common symptoms of anemia:

  • Pale skin, lips or nail beds compared to their normal color
  • Feeling tired or irritable
  • Feeling dizzy or lightheaded
  • Rapid heartbeat

They may also have jaundice (yellow color in the whites of the eyes; maybe yellow tint in the skin for some skin colors). This happens when red blood cells break down and their pigment, called bilirubin, builds up in the body.

Children with spherocytosis are also at risk for gallstones because their bodies make extra bilirubin, the pigment in bile. Bile is a liquid made in the liver and stored in the gallbladder. The gallbladder squeezes bile into the intestine to help digest fats. If substances in the bile harden, they can form little stone-like objects. These are gallstones. The stones can cause pain, infection or other problems if they get stuck in the tubes that lead out of gallbladder.

Hereditary Spherocytosis Diagnosis

To check for spherocytosis, the doctor will examine your child and may feel her abdomen to see if her spleen is enlarged. Blood tests will provide the other details the doctor needs to make a diagnosis.

Here are some of the things the doctor may look for in your child's blood:

  • The level of red blood cells. This shows whether the child has anemia. The test is called a complete blood count, or CBC.
  • The percent of immature red blood cells in the blood. These are called reticulocytes. The level is higher in people with spherocytosis.
  • The shape of the red blood cells as seen under a microscope. Red blood cells that look round instead of flat are a sign of spherocytosis.
  • How fragile the red blood cells are. This is measured by seeing how many cells in the sample remain intact after they are treated with a solution (osmotic fragility) or kept at a certain temperature (incubated fragility).
  • Whether the blood contains antibodies that can destroy red blood cells. This is called the Coombs' test.
  • The level of bilirubin and of an enzyme called LDH (lactate dehydrogenase). Both are higher in people with spherocytosis.