Saturday, October 24, 2009
My dear sweet 4 year old princess has Hereditary spherocytosis. Many have asked me what it is...so I will post it here for those interested.
HS is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen).
In HS the red cells are smaller, rounder, and more fragile than normal. The red cells have a spherical rather than the biconcave-disk shape of the normal red cell. These rotund red cells (spherocytes) are osmotically fragile and less flexible than normal red cells and tend to get trapped in narrow blood passages, particularly in the spleen, and there they break up (hemolyze) leading to hemolytic anemia.
The clogging of the spleen with red cells almost invariably causes splenomegaly. The breakup of the red cells releases hemoglobin and the heme part gives rise to bilirubin, the pigment of jaundice.
The excess bilirubin leads to the formation of gallstones, (this is what happened to her last week) even in childhood, There is also often iron overload due to the excess destruction of iron-rich red cells.
The bone marrow has to work extra hard to make more red cells. So, if in the course of an ordinary viral illness, the bone marrow stops making red cells, the anemia can quickly become profound. This is termed an aplastic crisis.
The treatment of hereditary spherocytosis is to remove the spleen (splenectomy). Although the red cell defect persists, the breakup of the red cells (hemolysis) ceases. Splenectomy, however, is a hazard in young children. Young children without a spleen are at increased risk for overwhelming sepsis (bloodstream infection), particularly with the pneumococcus bacteria. Splenectomy is therefore usually postponed if possible until the age of 3 years.
The prognosis (outlook) after splenectomy is for a normal life and a normal life expectancy
For now, this means that she gets very ill with certian viruses. She has already had 4 emergency transplants in her first 2 years of life. She was stable for 2 years, and now she is having some troubles again.
I am very careful to not expose her to sicknesses, but I have to be even more so now. I am praying for wisdom on where I take her and who I go around...especially with all the flu going around. If she gets sick again, they will want to yank out her spleen and gall bladder sooner than later.