hereditary spherocytosis

• By kota
• Posted September 12, 2007 at 12:00 pm
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Hello my name is Nicole. I inherited hereditary sherocytosis from my mother's side which is german/english. (Back in my mom's day they called it hemolytic anemia w/ sherocytosis). They just called mine sherocytosis. Four years ago, my son was in daycare and contraced a virus which set of an anemic crisis which made his spleen go bad. I was nine mo. pregnant and had to have an Emergency C-section. I also was out of it for two days because my hemoglobin was very low. I eventually recovered and one yr later my son and I had our spleens removed. Once you remove the spleen in our case, our hemoglobin goes to normal. My mom was sick as a kid. My brother had his removed, my nephew and my youngest son(4 yrs)has the gene that causes it so he may as well as his hemoglobin is low. They don't like to take out the spleen until at least 5yrs cuz it helps fight infections. Any more questions feel free to ask and hopefully someday they can help more. Peace.

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• By HSatseven
• Posted November 7, 2007 at 5:46 pm
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I seems to me that the prevelence of the disorder has increased with every generation since my father. What seems strange to me is that neither of his parents displayed any symptons, however he did have an aunt was disagnosed with Leukemia many years ago. When I was first diagnosed it was labeled Leukemia also, until the bone marrow biopsy ruled it out. Then it was finally diagnosed in 1970, I was 7 at that time, until then there had been no label for the 'sickness'. The Doctors told me when my daughter was born in 1984 that it does not skip a generation.
My father was one of 7 children who had it. Of my brother and sisters there were 3 out of 5, and now of the third generation it is 5 out of 8.

I want to learn more about its history. Where it started, etc.
We have all had our spleens and gall bladders removed, except my sister and my brother. (they were both about 2-1/2 -3 years old when they had their Spleen removed- so there was not a build up of stones). My father still has his spleen and is 67. The doctors determined it is best that he not have his removed at this point.

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• By foreverinbluejeans
• Posted November 8, 2007 at 3:53 pm
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There are more people with HS now because more people have been able to live to adulthood and have children. The incidence of HS is 1 in 5,000 people, not really all that rare. It is estimated that over 1% of the US population are silent carriers of the disease.

I was a medical lab technologist and worked in hematology in the 1970s. At that time there were not machines that could do white blood cell (WBC) differentials so all complete blood counts involved staining and doing manual wbc differentials using microscopes. When doing the differentials, the tech should have looked at the red blood cells (RBC) to see if the cells looked normal.

There was a problem with this approach. Even if a patient had a low hemoglobulin (HGB), the tech might not recognize that there was a problem. This may have been due to poor training. What also happened was that non-techs drew the blood and made the fresh blood smears. The blood smears were frequently of poor quality and that would affect the RBC morphology, how the RBCs looked. If the tech made a new slide from the blood tube, RBC atypical morphology (abnormalities) may have been considered the result of anticoagulant in the blood tube.

Reporting out abnormal CBCs was usually complicated. Two or more techs may have to agree the RBCs are abnormal. Then a pathologist would look at the slide. Reporting out abnormal RBCs would likely mean the patient would be subjected to a bone marrow exam. Techs did not want to report out abnormal RBCs, it was too much trouble.

Now there are machines and techs don't look at slides, except if there are abnormalities the machine reports and it is the policy of the lab to have a tech look at the slide. Techs are less experienced since they examine few slides. Reference labs may have overworked techs.
So, there are still problems with getting a rapid, accurate diagnosis from CBCs.

There are four different kinds of HS and each has different causes. There is a wide range of severity of the disease. The spleen's job is to filter out abnormal RBCs. If there are too many abnormal RBCs the patient becomes anemic and there can be problems with the spleen. That's why people with HS have their spleen removed.

The problem with removing the spleen is that it protects against certain infections. Pediatric patients that have their spleen may be at 500 times the risk of sepsis (infection in the blood) from certain kinds of bacteria. Encapsulated bacteria are especially bad. Encapsulated bacteriea have a tough shell. Certain strep and haemopholis infections can be very hard to treat and can cause death from sepsis, pneumonia, or spinal fluid infections.

These encapsulated bacteria also cause problems for people with hypogammaglobulinemia. IV gamma globulin can protect people from these bacterial infections. If my child were to have their spleen removed, I would talk to doctors about IV gamma globulin therapy. IVs are usually given every three weeks, are very expensive, and not very pleasant. They are effective.

People without their spleen have the spherocytes circulating in their blood. Spherocytes do function as RBCs, just not as well. It would be important for a child to have a good diet. If a child is diagnosed in infancy or while they are still breastfeeding, it would be to the child's advantage to breastfeed as long as possible. Breastmilk is a living substance similar to blood that protects children from infection and has iron that is easy to absorb. The child may benefit from breastfeeding even as long as 3-5 years. My children have hypogammaglobulinemia and are at risk from encapsulated bacteria and their hemotologist recommendeds 6 years.

If a child has their spleen removed it would be important for them to avoid high risk infectious areas like day care, church, crowds, and possibly school. Many doctors will think that children with life-threatening medical conditions should have the experience of living as 'normal' of a life as possible. It was my experience with my 3 children that it was better to avoid certain situations and to homeschool than to have frequent illnesses including serious, life-threatening infections.

A lot hasn't changed from the 70s. More people survive because they get good medical care and surgery techniques have improved. In the future there may be a genetic treatment. As bone marrow transplants become better, they may offer a cure. Your children may benefit from genetic counseling before future pregnancies.

I'm sorry for any spelling mistakes. I am not using my computer and can't go from screen to screen to make sure I spell medical terms perfectly. I hope this was helpful.

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• By asturgill
• Posted February 22, 2008 at 2:57 pm
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My son Noah was born 8-12-03. He had to have heart surgery when he was 7 months old to correct tetrology of fallot. He did great with his surgery. He has a yearly check up. He has always been sick. Cold, asthma symptons, croup, etc. He kept infected tonsils. His tonsils and adenoids were removed June 1st of 2007. He kept telling us his stomach hurt. We took him to his ent and family doctor. Told us okay, virus. June 22nd he awoke in the middle of the night crying in pain with his stomach. We took him to the er. His hemoglobin was 7. CT scan, enlarged spleen. We went to his doctor. She checked him. Told us might be cancer. Sent us to a hematology and oncology doctor. Thank God! It was not cancer. But, Spherocytosis. Test showed that Noah had gallstones.
He had to get three shots a month before the surgery could be done. His spleen and gallbladder were removed August 7, 2007. He did great! Noah will be 6 August 12. He takes folic acid and penicillin vk daily. I still worry about him. He gets a check up each three months for the 1st year.
This is not heard of where I live. I think it is from my husbands side. You said your mother was german. My mother-inlaw is german and not sure what else. I worrie about him all the time. He started k a month after his spleen/gallbladder surgery. He keeps a runny nose or stopped up nose all the time. He seen a allergist last month. They want him to start allergy shots. Any thoughts and information is appreciated. Thank you, Ann

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• By kota
• Posted February 22, 2008 at 5:06 pm
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Hi...My son was five when he went thru this...luckily he still has tonsils as well as me. This disorder comes from my maternal grandma's side. My mom who has been tracing her mom's history found out that many of the female's died b4 reaching a certain age due to this. We now have the knowledge to deal w/ it. Unfortunately for me, the virus that set it off, also went into my bone marrow so now my bone marrow doesn't make the white counts it needs to. I was anemic for many yrs, now my white counts r low sow I have to take care of myself and when I feel tired or ill(I run low grade fevers) I need to rest. Take care and hope your son stays well. Kota

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• By har
• Posted November 26, 2008 at 4:41 am
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Treatment throughout three generations have remained the same. My dad had his spleen removed in the 1950's. Our family doctor diagnosed my sister and I in infancy and we received the same treatment in the 1970's. When my children were born, our family doctor had passed away. I asked to have my children tested for HS and was told they were fine. After my daughter became gravely ill, I had a difference of opinion with our local hemotolgist. It was very disturbing to be told by a hemotologist that it is improbable that it was HS, as she is third generation. Her anemia was causing life threatening conditions, and he sat there so excessively bold.
It very bizarre, that something diagnosed forty years before could not be analized and logically concluded. I then took my daughter to a children's hospital in a different city that my sister had had her children tested at. Three of her four children have HS. A very specific test for HS was given, she was diagnosed and immediately put into emergency surgery.

It is my hope, that the practices of my daughter's caregivers will influence other centers.
Anyway, it has taken her a little longer to recover but is now doing well.

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