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Q. Is mild hereditary spherocytosis the correct diagnosis?

Answered by
Dr. Smrita Singh
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Feb 12, 2018 and last reviewed on: Oct 09, 2018

Hello doctor,

I have been diagnosed with mild hereditary spherocytosis. My eyes still yellow. Is it unlikely hematologist who diagnosed me three years ago misdiagnosed? I do not doubt he knows his stuff. More about me getting worried. I lost weight a couple of months ago. I went very yellow in the eyes. I have always felt tired. I have had gallbladder out four years ago, I bruise easily, I do get little red skin dots at times, menstrual cycles can be irregular and spleen slightly enlarged.

#

Hello,

Welcome to icliniq.com.

I have gone through your lab reports (attachment removed to protect patient identity) and they are consistent with the diagnosis made by your doctor.Yellowish tint of the eyes is due to increased bilirubin levels. This is due to the increased red blood cell destruction in the spleen and is commonly a complication of hereditary spherocytosis.

It is understandable that you are feeling weak since your body is producing red blood cells at an accelerated rate to compensate for the destruction occurring in the spleen. This is also the reason why your spleen is enlarged.

If your condition worsens, your doctor might suggest a splenectomy. This will not cure the condition but will relieve the symptoms since the site of destruction of red blood cells will be removed and your red blood cells will be able to survive for a longer period in the blood. Splenectomy, however, can predispose one to certain bacterial infections and it is important that you receive the appropriate vaccines regularly.

You could take folic acid and vitamin B12 supplements since one of your blood tests show macrocytic anemia.

For more information consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist

Thank you doctor,

My bilirubin was reading +1. Does this indicate liver damage? Or just blood condition symptom? My spleen has not been removed. It was mentioned as a future option. I am considered mild HS. My bloods do seem to go with HS diagnosis? Would HS respond to a transfusion or it would break down red blood cells too quickly?

#

Hello,

Welcome back to icliniq.com.

When you say your bilirubin was +1, I am assuming that it is elevated, since bilirubin is usually measured in mg/dl, with the normal range for total bilirubin being between 0.2-1.2 mg/dl. You can compare the value if you have them in these units.

Also, the yellowish tint of your eyes is a definite sign that your bilirubin is elevated. It is due to increased RBC destruction like I stated earlier.

A blood transfusion is usually required for severe anemia. I would suggest that you take Folic acid and Vitamin B complex daily and see if your weakness improves. If it does not only then you should consider getting a blood transfusion.

For more information consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist

Thank you doctor,

Does this mean my iron is low? My mensturation is absent for months and can come back. I did have ultra sound internally and externally, PAP smear. But, nothing abnormal. Does HS known to cause this? I have increased folic acid intake thinking it will help with energy and jaundice. Kind regards.

#

Hello,

Welcome to icliniq.com.

I am glad that you have noticed some improvement. Your serum iron levels are normal and your serum ferritin levels are slightly decreased. This means that your iron stores are slightly depleted. The main aim in hereditary spherocytosis is to prevent iron overload and the complications associated with it. I would thus not advise you to take any iron supplements.

However, you must remember that you need to take Folic acid tablets daily for the rest of your life in order to prevent anemia. You are already anemic and the Folic acid tablets will help for the type of anemia you have.

As for the jaundice (yellow eyes), you should not be very worried since your bilirubin levels are not very high. Splenectomy is only indicated if your hemoglobin levels are below 8 gm/dl and you require multiple blood transfusions. You could try dairy products like yogurt instead of milk since the lactose has already been digested in yogurt and you will have lesser tendency to bloat.

Continue your folic acid tablets and other supplements. Folic acid takes time to work. It will take at least a month or two more to see a marked difference. If the jaundice worsens and you have nausea and vomiting, you need to see your doctor immediately. Thank you.

For further information consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist

Thank you doctor,

Just to clarify, is my iron low? Will folic acid help with RBCs? How much folic acid is recommended? What is the function of folic acid for anemia, without causing too much iron in blood? With my readings, Does increased bilirubin not related liver function issues? Is it a HS symptom? I still try to get my head around this. I know stress has not helped mensturation either and I just hope fertility is not affected. My tests for PCOS and endometriosis were luckily negative.

#

Hello,

Welcome back to icliniq.com.

Your iron stores are slightly low. You should take 0.5 mg Folic acid daily, never more than 1 mg on a daily basis. You have macrocytic anemia which in hereditary spherocytosis is due to folic acid deficiency. Folic acid is required in DNA synthesis which is essential for cells to replicate. If your folate levels are low, your body will not be able to make more RBCs and cause anemia.

Your menstrual cycle should appear once your hemoglobin levels are normal. If you have any further questions, please let me know.

For further queries consult a hematologist online --> https://www.icliniq.com/ask-a-doctor-online/hematologist


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