Hereditary Spherocytosis

Patient Stories

‘We wouldn’t go anywhere else’

Maria and Miguel Martinez have been coming to Children’s Medical Center since the birth of their second child in 1993. Four of their five children have the inherited blood disorder called hereditary spherocytosis. “I don’t have to worry about their care,” Mrs. Martinez says. “The medical staff takes care of them really well. I wouldn’t take them anywhere else.”

What does she tell her children about having hereditary spherocytosis? “I tell them they have no limits and they can still do everything other children do,” she says. However, she does instruct her children to take care of themselves with enough rest and good nutrition, especially if they have been very active and their blood counts are low.

Hereditary spherocytosis (HS) is a type of anemia where the red blood cells are shaped like stiff spheres and do not live as long as regular red blood cells. The rigidity of the red blood cells leads to premature cell breakdown in the spleen and a low red blood cell count. If there are not enough red blood cells in the body, children affected by spherocytosis may become tired, lose energy or have shortness of breath. These are all symptoms of anemia.

Dr. George Buchanan, medical director of the Center for Cancer and Blood Disorders at Children’s, is the Martinez children’s primary hematologist.

The family’s overall experience at Children’s “has been the best,” Mrs. Martinez says. “I am so thankful for Children’s.”

HS is a relatively common disorder among Caucasians and Hispanics, affecting about 1 in every 2,000 to 5,000 persons.