Hereditary Spherocytosis is a relatively uncommon blood disorder, occurring in 1 person out of approximately 5,000.

As the name suggests, the condition is primarily an inherited one. With this condition, the blood cells are mutated, and are atypical cells with very thin walls. Because the cells are not the shape healthy red lbood cells are, they have difficulty passing through the body. However, unlike sickled cells, they do not cause pain as they pass through the body. A hallmark of the condition is that the spleen retains these cells longer because of their inability to easily pass through it, and thus become damaged by the spleen.

Those with severe cases of Hereditary Spherocytosis are generally encouraged to have the spleen removed, once it is mature, after age seven or so. Once this occurs, the person is not “cured” but anecdotally are reported to have fewer symptoms. After the splenctomy, people with HS are generally prescribed a daily antibiotic that they must take for life, since they are more susceptible to infection.

Severe viral illness can halt red blood cell production in the bone marrow. This can, in turn, create a downward spiral in which the hemoglobin count drops below normal limits. In severe cases, blood transfusions are necessary, until the hemoglobin count can be elevated.

Tests to confirm the presence of HS are:

* Bilirubin count
* Osmotic fragility (testing the fragility of the cellular walls)
* Reticulocyte count
* Complete Blood Count (CBC)

The symptoms of HS are:

* A jaundiced look (yellowing of the skin and eyes)
* Pallor of the tongue, lips and palms
* Extreme lethargy (marked by sleeping for abnormally long periods of time)
* Temperature greater than 101.5
* Parents are also encouraged to check that bruises heal normally

There isn’t a lot known about this condition, so support and information are scarce. There is one Yahoo Group dedicated to it, and a member of that group has launched a website in order to raise awareness and start a support foundation. Links are provided for your personal use to further your understanding of this condition. Medical questions should be directed to a medical professional competent to diagnose the condition.

Resources:

HS at Yahoo Groups

Hereditary Spherocytosis

Texas Children’s Cancer Center and Hematology Service



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