Table of Contents
Is hereditary spherocytosis rare?
HS affects about 1 in 2,000 individuals in North America. People with HS have been reported in other areas of the world as well. HS is caused by genetic changes in five different genes; ANK1, SLC4A1, SPTA1, SPTB, and EPB42. Age of onset varies, but often occurs between 3 – 7 years of age.
What does spherocytosis mean?
Hereditary spherocytosis is an inherited blood disorder. It happens because of a problem with the red blood cells (RBCs). Instead of being shaped like a disk, the cells are round like a sphere. These red blood cells (called spherocytes) are more fragile than disk-shaped RBCs.
Does hereditary spherocytosis affect the liver?
Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age.
Can spherocytosis be cured?
Treatment options There is no cure for HS, but it can be treated. The severity of your symptoms will determine which course of treatment you receive. Options include: Surgery: In moderate or severe disease, removing the spleen can prevent common complications that result from hereditary spherocytosis.
Does spherocytosis affect child?
The symptoms of spherocytosis are minor in some children. But for many children the condition is more serious. Your child may get these common symptoms of anemia: Pale skin, lips or nail beds compared to their normal color.
Is spherocytosis an sickle cell disease?
In several hereditary disorders, red blood cells become spherical (in hereditary spherocytosis), oval (in hereditary elliptocytosis), or sickle-shaped (in sickle cell disease). In sickle cell disease, the red blood cells contain an abnormal form of hemoglobin (the protein that carries oxygen).
Does spherocytosis affect life expectancy?
Most children have mild disease and do not need removal of the spleen (splenectomy). They have a normal life expectancy. If the spleen is removed, the red blood cells will survive for much longer and fewer transfusions are then needed. However, there is an increased risk of life-threatening infections.
Can someone with spherocytosis donate blood?
1. Must not donate if: Clinically significant haemolysis.
Can people with spherocytosis donate blood?
Can you donate blood with spherocytosis?
What causes spherocytosis?
Genetic Disease. Hereditary spherocytosis is a genetic disease, which means that it is caused by one or more genes not working correctly.
Can you live a normal life with Spherocytosis?
They have a normal life expectancy. If the spleen is removed, the red blood cells will survive for much longer and fewer transfusions are then needed. However, there is an increased risk of life-threatening infections.
Can you donate plasma if you don’t have a spleen?
Splenectomy/Spleen Removal If the spleen was removed due to injury or trauma, a donor may give: Whole blood. Plasma via apheresis. Red blood cells via apheresis.
Can you live a normal life with spherocytosis?
Is spherocytosis an autoimmune disease?
Spherocytosis may be present in autoimmune hemolytic anemia in which autoantibodies react with red blood cells and cause alterations in their membranes that includes lysis of red blood cells. Spherocytes may develop during this destruction of red blood cells.
What are the symptoms of spherocytosis?
Disease at a Glance Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen.
How is spherocytosis treated?
The treatment for hereditary spherocytosis is individualized and may require transfusions, folic acid administration, full or partial splenectomy, and/or cholecystectomy. Complications of spherocytosis may include megaloblastic crisis, low folic acid levels, splenomegaly, and/or gallbladder problems.
What is the cause of spherocytosis?
For the hereditary cause of this disorder, see Hereditary spherocytosis. Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes ( red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Spherocytes are found in all hemolytic anemias to some degree.
What is the difference between poikilocytosis and spherocyte?
In short, spherocytosis has an attribute of decreased cell deformability. Spherocyte compared to other forms of poikilocytosis. Spherocytosis can be diagnosed in Peripheral blood film by seeing spherical red blood cells rather than biconcave.
What is hereditary spherocytosis (Minkowski–Chauffard syndrome)?
Hereditary spherocytosis. Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an abnormality of red blood cells, or erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped ( spherocytosis)…
What is the difference between hereditary and non-hereditary spherocytosis?
The term “non-hereditary spherocytosis” is occasionally used, albeit rarely. Spherocytosis most often refers to hereditary spherocytosis. This is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including spectrin, ankyrin, Band 3, or Protein 4.2.