Saturday, October 24, 2009

Hereditary spherocytosis

My dear sweet 4 year old princess has Hereditary spherocytosis. Many have asked me what it 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.


  1. Very informative. But, if this is hereditary, why does she have it and nobody else? Do girls get it more often? Does it run in either of your families - does anyone else in either of the families have it? It's just so weird how it popped up with her, kwim?

    I am and will continue to pray for her. I hear you that avoiding sickness is your main goal right now and, coming up on this season, I know you need extra prayer. God is her protector.

    Blessings to you all.

  2. Great medical team in Grand Rapids, Michigan at DeVos Children's Hospital. Ask for Dr. David Dickens. He's our children's Hemotolgist. We have 8 in our family that have Hereditary Spherocytosis. Both my children were born with severe HS. My daughter had 18 blood transfusions and over 400 needle pokes before she was 2. At which time we had to take her spleen. She is almost 7 now and perfectly healthy. Rarely gets sick. My son was born 5 year's after my daughter and medical research in HS was a blessing for us. Our son had only 3 blood transfusions before 3 months old and which time we agreed to be the 1st Grand Rapids to Arensep monthly shots with our infant to help his blood. Our son is 15 months old now and Arensep saved his life from being identical to my daughter. He's been off Arensep for 4 months and his blood levels are high and his spleen tiny. Arensep was a gift from God for us.

  3. their is 8 in my family with this 6 have had their spleen out 2 more just have to wait for as long as they can,but all well and very selldom ill,3 had their gold bladder and stones out 2 of them had key hole The Thompson family

  4. 8 in my family girls and boys all fine 6 had spleen out never ill xxx The Thompson Family

  5. I have three daughters who have HS as well as myself. We have all had our spleen and gall bladders removed. We do get sick more than others are age but we are pretty healthy. This disease is very prominent in my family. I have 12 other family members that have the disorder. The doctors these days no more about the disorder then when I was a child. I use to have to educate the doctors when my children were little because most of them had never heard of the disorder.

  6. HS runs on my side of the family as well. My father, sister, brothers, and myself have it. My 7 month old baby boy is anemic and jaundice and we are testing him tomorrow. Thank you for posting this as it will help me explain this better to my husband.