Top
20
Doctor insights on: Hereditary Spherocytosis

Share
Dr. Andrew Berry
15 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).


1

1
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

See 1 more doctor answer
Dr. Andrew Berry
15 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).


2

2
I'm 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?

I'm 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

See 1 more doctor answer
3

3
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

4

4
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

5

5
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

See 1 more doctor answer
6

6
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

7

7
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

8

8
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

9

9
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

10

10
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

11

11
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

12

12
My son is 6 and has hereditary spherocytosis. I am terrified he is going to get parvovirus and I won't know since presentation is mild. Help!

My son is 6 and has hereditary spherocytosis. I am terrified he is going to get parvovirus and I won't know since presentation is mild. Help!

Repeater: In the unlikely event that he gets parvo and actually needs to be supported through it, you'll have plenty of time between the onset of obvious serious illness and any risk of death. At least a few days. Keep reading accurate stuff. No reason to be "terrified." Better to focus. On his overall nutrition, development, fitness, folate status Read more

13

13
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

14

14
What determines if hereditary spherocytosis is mild, moderate or major and spleen removal is needed.?

What determines if hereditary spherocytosis is mild, moderate or major and spleen removal is needed.?

Depends on: Size of spleen, severity of anemia, and presence of gallstones. You need to consult with a hematologist for advice regarding options for treatment, including operation. Read more

15

15
My five-year-old son is going through a work up to find a hemoglobin disorder. They think it is hereditary spherocytosis. Is this fatal or dangerous??

My five-year-old son is going through a work up to find a hemoglobin disorder. They think it is hereditary spherocytosis. Is this fatal or dangerous??

Mgt: It is a inherited disorder, and there are treatments available. This is one link for information: https://ghr. Nlm. Nih. Gov/condition/hereditary-spherocytosis#diagnosis Read more

16

16
My son was just dx with hereditary spherocytosis. I am SO worried about him getting parvovirus and going into Aplastic crisis. What do I watch for??

My son was just dx with hereditary spherocytosis. I am SO worried about him getting parvovirus and going into Aplastic crisis. What do I watch for??

Parvovirus B19: The main symptom to look for in aplastic crisis is pallor. Parvovirus B19 is somewhat common and symptoms overlap with upper respiratory infection, so it may difficult to avoid completely. People are contagious before the rash appears. Reduce risk of transmission with good handwashing and avoiding close contact with sick people. Read more

17

17
My son is 6 and just dx w hereditary spherocytosis. If he gets parovirus will he definitely go into aplastic crisis? How will I know it's parvovirus??

Parvovirus: The usual coarse of this virus is usually self resolving in a few days to few weeks
in children with chronic anemias like cong spherocytosis if exposed the child will be monitored by your heamatologist and possibly get IVIG if the parvovirus PCR is positive and they have good results with that Read more

18

18
My 6 yo son was dx with hereditary spherocytosis. I am SO worried about him getting parvovirus and going into Aplastic crisis. What do I watch for??

My 6 yo son was dx with hereditary spherocytosis. I am SO worried about him getting parvovirus and going into Aplastic crisis. What do I watch for??

Pale=ghostlike: Most have a mild to moderate form with a variety of symptoms including mild anemia, which produces fatigue & pallor (ghost like appearance).Intermittent episodes of more profound anemia can occur, but are not silent. Whether this is after a febrile illness like parvo, or a blood trapping event in the spleen, the kids are sicker, have abdominal pain, fatigue & >pallor. All are treatable Read more

19

19
My 5 yo is being tested for hereditary spherocytosis. Low hgb detected on standard cbc. Hgb is 11.5-12.1. No other sx. Will he need spleenectomy??

My 5 yo is being tested for hereditary spherocytosis. Low hgb detected on standard cbc. Hgb is 11.5-12.1. No other sx. Will he need spleenectomy??

Not @ that level: I wonder if he has HS if his hgb level is that high (low -nl) if it were 7-9 it might be worrisome Splenectomy is not automatic and often delayed as long as possible to help the kid build his immune system (spleen helps). Some infections can trigger worrisome drops in their hgb level, but if not in crisis by age 5 he may get by without it. Read more

20

20
Will a child who has mild hereditary spherocytosis automatically go into aplastic Anemia crisis if he gets parvovirus? Will some kids avoid it?

Will a child who has mild hereditary spherocytosis automatically go into aplastic Anemia crisis if he gets parvovirus? Will some kids avoid it?

Usually are okay: Whether it's trivial illness or will require transfusion depends on the severity of both processes. Splenectomy in these patients is a personal choice. Aerobic fitness is important to me so I'd do it, but the infection risk is something to consider. Junior can help decide when he's older. Read more