Is mild hereditary spherocytosis the correct diagnosis?

Hello,

Welcome to icliniq.com.

I have gone through your laboratory reports (attachment removed to protect patient identity) and they are consistent with the diagnosis made by your doctor. The 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.

I hope this helps.

Thank you.

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.

Thank you.

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.

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.

Thank you.

Hello,

Welcome back to icliniq.com.

ANA stands for antinuclear antibody. A positive ANA test means that your body produces antibodies against your cells. Typically antibodies are produced by the body to fight foreign invaders like bacteria, viruses, etc.

This means that you have an autoimmune disease. The most common autoimmune disease in which the ANA test is positive is systemic lupus erythematosus (SLE). In addition, patients with autoimmune disorders can have autoimmune hemolytic anemia in which the antibodies bind to the red blood cells and result in their lysis.

Hereditary spherocytosis is an inherited condition, while autoimmune hemolytic anemia can be idiopathic (i.e., without any known reason) or acquired, which means that it occurs as a result of some disease process, infection, or drugs. A direct Coombs test is positive in autoimmune hemolytic anemia. The confirmatory test for hereditary spherocytosis is flow cytometry using a dye called eosin 5 maleimides (EMA). Do you know if this test was done when you were diagnosed with hereditary spherocytosis? If yes, then you could be suffering from autoimmune hemolytic anemia and hereditary spherocytosis, which may be worsening your symptoms. The good news is that autoimmune hemolytic anemia can be cured if it is acquired and the underlying cause is treated.

I hope this helps.

Thank you.

Hello,

Welcome back to icliniq.com.

You mean that the ANA test was done eight years back and was positive then, right? If yes, then I am sure your hematologist was aware of it, as he would have had all your previous laboratory reports. If you are unsure whether your hematologist knew that your ANA test was positive, you could bring it up in your next appointment. If it was not worked up and autoimmune disease was not ruled out, then it needs to be done to receive any additional treatment you might need.

I hope this helps.

Thank you.