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My dear sweet 4 year old princess has Hereditary spherocytosis...

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…

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Articles of Interest

Clinical Manifestations of Hereditary spherocytosis

The severity of symptoms in infants and children is variable. Some children remain asymptomatic into adulthood, but others may have severe anemia, with pallor, jaundice, fatigue, and exercise intolerance. Severe cases may be marked by expansion of the diploë of the skull and the medullary region of other bones, but to a lesser extent than in thalassemia major.

Hereditary spherocytosis (abnormally shaped red cells

So because your red blood cells can be shaped funny they get caught up in your spleen which has a big wave kind of vein going through it that takes dead platelets and abnormal cells away. As some of or all of your red blood cells are shaped funny the spleen goes into overdrive and takes too many so your red blood cells don't live as long and you get anemic and also on occasion very yellow as your bilirubin also increases. Spleen gets bigger and you get paler.

The Battle with Hereditary Spherocytosis

As some of you know, my youngest son Ryan is in a constant battle with his body. He gained a blood disorder through family genes called Hereditary spherocytosis. This disease causes a percentage of his red blood cells to be odd shaped but still healthy, in turn, his spleen detects them as being a foreign object and destroys them. This is obviously bad...

Understanding Hereditary Spherocytosis

HS results from changes in the genes that make proteins supporting the RBC membrane. These can include spectrin, ankyrin, band 3, or protein 4.2. Most people inherit HS in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting it if one parent has HS. Some cases occur as new (de novo) mutations.

Resources

Hereditary Spherocytosis

If someone said to you they had HS would you know what it is? If someone said they had epilepsy you would! Both are just as life changing!

Hereditary spherocytosis awareness

We are raising funds for Addenbrookes research centre and day unit plus trying to raise awareness of hereditary spherocytosis a rare blood disorder

GARD

About half of all cases of hereditary spherocytosis are due to mutations in the ANK1 gene. Other genes associated with the condition include the EPB42, SLC4A1, SPTA1, and SPTB genes.

Genetics Home Reference

It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.

Med Care Tips

Twenty-five percent of all newly diagnosed patients result from new mutations. Parents of these sporadic cases do not have clinical or hematologic abnormalities.

Patient

About 6-7 in 10 people with HS have moderate or severe disease. Half of these are first diagnosed in childhood with anaemia. Mild disease may need no treatment. Moderate and severe disease may need blood transfusions if there is severe anaemia. Folate tablets (or liquid for small children) are also given to help the body to keep replacing the red blood cells. A normal diet will not meet the increased demand for folate. Medicines such as steroids may reduce the need for transfusions in a crisis