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Doctor insights on: Hereditary Spherocytosis

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Dr. Thomas Inwood
12 doctors shared insights

Hereditary Spherocytosis (Overview)

Hereditary form of a blood disorder, inherited in a dominant fashion such that its presence on one allele/chromosome will be associated with clinical disease. In this blood disorder, the red blood cells are sphere-shaped and less deformable than their normal biconcave counterparts. Hence, these abnormal cells are destroyed during their passage in the spleen (hemolytic anemia).


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What do I do for hereditary spherocytosis?

What do I do for hereditary spherocytosis?

It depends on the...: Severity of your disease. There is wide variation in the clinical presentation, even within the same family (presumably the same mutation). This is because of the influence of "modifier" loci. Hs cells are more fragile as they pass through the circulation. The bone marrow works harder to compensate. Pts are at risk for hemolytic and aplastic crises. Take folate (folic acid) supplement. Be eval'd 4 abd pain. ...Read more

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Dr. Thomas Inwood
12 doctors shared insights

Hereditary Spherocytosis (Overview)

Hereditary form of a blood disorder, inherited in a dominant fashion such that its presence on one allele/chromosome will be associated with clinical disease. In this blood disorder, the red blood cells are sphere-shaped and less deformable than their normal biconcave counterparts. Hence, these abnormal cells are destroyed during their passage in the spleen (hemolytic anemia).


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Im 18 y and I have hereditary spherocytosis, i want to know if taking high doses of (folate (folic acid) as metafolin) can help me? And cyanocobalamin can help too?

Im 18 y and I have hereditary spherocytosis, i want to know if taking high doses of (folate (folic acid) as metafolin) can help me? And cyanocobalamin can help too?

Yes: Yes, absolutely, take folic acid, vitamin B12 supplement . In addition, you may want to ask you md to check your iron level and if your iron is low- you should also take some iron supplement. With hs- you will have chronic hemolysis - rbc destruction -thus your body needs what ever it takes to hep produce new red blood cell to compensate with the hemolysis. Also you are at risk to have gallstones. ...Read more

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Is fatigue caused by hereditary spherocytosis?

Is fatigue caused by hereditary spherocytosis?

Not likely: Given most patients with hereditary spherocytosis (hs) have the disease lifelong would not likely cause a change in fatigue levels. ...Read more

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Hereditary spherocytosis treatment?

Hereditary spherocytosis treatment?

Supportive care: There is no cure for hereditary spherocytosis (hs) and treatment is supportive. Blood transfusions are sometimes required. Folic acid supplementation can be helpful. Hs patients frequently develop gallstones and the gallbladder sometimes needs to be removed. Lastly, the removal of the spleen can be quite helpful for certain patients, but the risks and benefits of doing this need to be discussed. ...Read more

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What do I do for hereditary spherocytosis?

It depends on the...: Severity of your disease. There is wide variation in the clinical presentation, even within the same family (presumably the same mutation). This is because of the influence of "modifier" loci. Hs cells are more fragile as they pass through the circulation. The bone marrow works harder to compensate. Pts are at risk for hemolytic and aplastic crises. Take folate (folic acid) supplement. Be eval'd 4 abd pain. ...Read more

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Can you tell me about hereditary spherocytosis?

Can you tell me about hereditary spherocytosis?

Fragile RBCs: Hereditary spherocytosis (hs) is the most common inherited anemia in persons of northern european descent. It is caused by a mutation that changes the shape of red blood cells (rbcs) that makes them more fragile. Hs can range from almost no symptoms to more severe symptoms requiring blood transfusions. Sometimes splenectomy is required. A hematologist can advise you about what to look out for. ...Read more

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What is the definition or description of: hereditary spherocytosis?

What is the definition or description of: hereditary spherocytosis?

Cell abnormality: Hereditary form of a blood disorder, inherited in a dominant fashion such that its presence on one allele/chromosome will be associated with clinical disease. In this blood disorder, the red blood cells are sphere-shaped and less deformable than their normal biconcave counterparts. Hence, these abnormal cells are destroyed during their passage in the spleen (hemolytic anemia). ...Read more

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What are the chances of passing hereditary spherocytosis onto child?

What are the chances of passing hereditary spherocytosis onto child?

Depends: The most common hereditary form is autosomal dominant, with a 50% transmission risk with every conception. There is a less common autosomal recessive form, requiring carriage by both parents of a recessive gene, this form would not be passed by an affected person unless the spouse was a carrier, . ...Read more

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Why do patients with hereditary spherocytosis have fatigabilty?

Why do patients with hereditary spherocytosis have fatigabilty?

See below: The red blood cells in people with hereditary spherocytosis are sphere-shaped rather than the disk shape of a normal red blood cell. These spherocytes are destroyed in the spleen ( which is often enlarged), resulting in varying degrees of anemia. It predominantly is the anemia which causes fatigue. This is a common symptom in this disease. ...Read more

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Hi doctors, can you tell me what is hereditary spherocytosis, is it bad?

Hi doctors, can you tell me what is hereditary spherocytosis, is it bad?

Fragile RBCs: Hereditary spherocytosis (hs) is the most common inherited anemia in persons of northern european descent. It is caused by a mutation that changes the shape of red blood cells (rbcs) that makes them more fragile. Hs can range from almost no symptoms to more severe symptoms requiring blood transfusions. Sometimes splenectomy is required. A hematologist can advise you about what to look out for. ...Read more