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Q. My daughter has beta-thalassemia major. Will she be transfusion dependent?

Answered by
Dr. Goswami Parth Rajendragiri
and medically reviewed by Dr.Nithila A
This is a premium question & answer published on Jul 02, 2019

Hello doctor,

I am a beta thalassemia minor, but my wife is not. Recently my 5-year daughter was diagnosed with beta-thalassemia major (heterozygous). She is active and playful. No problem reported yet, but her Hb level is between 7.8 to 8.8 from starting. Her spleen is enlarged as diagnosed in USG. Will she be transfusion dependent? Please advice.

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#

Hello,

Welcome to the icliniq.com.

If you are having thalassemia minor and your wife is thalassemia negative than there is no chance of acquiring thalassemia major in your child.So your wife must also have thalassemia minor if your child is thalassemia major. Your child's attached report suggestive of thalassemia major (attachment removed to protect patient identity).

The only treatment in thalassemia major is either bone marrow transplantation or regular blood transfusion to maintain hemoglobin level within range. So your child might need a routine blood transfusion to maintain hemoglobin within range. She can be given an iron tablet, but it will not work in your child case as she has thalassemia major. I am sorry to say, but your child will need a blood transfusion for the treatment of low hemoglobin.

You can consult nearby good hematologist or the place where bone marrow transplantation facility is available, which is a curative treatment for thalassemia major. But it is costly treatment. I hope I have answered well of your question in detail. I will guide you further if needed.

Thank you doctor,

What is the success rate for a bone marrow transplant, and what would be the cost approximately?

#

Hello,

Welcome back to icliniq.com.

The success rate can vary in a different person. The overall success rate of BMT (bone marrow transplant) for thalassemia major is around 85 to 90 %. The HLA (human leukocyte antigen) matching is also required for bone marrow transplantation. The cost also varies in different hospitals. I hope I have answered your question. Let me know if I can assist you further.

Thank you doctor,

She was fine till yet at the age of 5, her weight is fine, which is 12 kg and height is good, with no complications till so far and her hemoglobin also remains 8 to 9. Why?

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Hello,

Welcome back to icliniq.com.

The thalassemia major usually becomes symptomatic after one year of age. Sometime clinical picture might be delayed. But the attached report states a case of thalassemia major. She might have thalassemia intermedia like condition as well in which the patient might not need a regular blood transfusion. She has enlarged spleen as well so suggestive of hemolytic anemia like thalassemia.You need to consult good nearby hematologist for detailed physical examination and get prescription accordingly. Initially, the iron injection can be prescribed and if no improvement than blood transfusion given. You can repeat her testing for thalassemia major if your wife is normal without thalassemia. You can attach her all reports so that I can check it. Kindly attach your and your wife's reports as well if available. I hope I have answered your question. Let me know if I can assist you further.

Thank you doctor,

1). What is the difference between alpha and beta thalassemia?

2) If suppose she has major thalassemia, does she need a blood transfusion? And how often does she need a blood transfusion?

3) She is Ab positive. Can she can obtain blood from any category?

4) What is the dangerous level of Hemoglobin range?

5) Is it possible for her to live a healthy life?

#

Hello,

Welcome back to the icliniq.com.

I have read your questions, and below are the answers to your questions.

1. In alpha, thalassemia alpha chain deletion occurs. It means the reduced alpha chain is the defect. In beta thalassemia, beta chain synthesis is reduced, so an error is in the beta chain. The hemoglobin contains two alpha and two beta chain. According to the reduction in alpha or beta chain, the thalassemia is classified.

2. In thalassemia, major blood transfusion needs to be given at 20 to 30 days interval regularly.

3.If her blood group is AB positive than she needs to be given only the AB blood group. Before transfusion cross matches testing indirect Coombs test should be done to check the compatibility of donor and recipient.

4. Hemoglobin level below 7 is considered severe anemia. However, it is advisable always to keep hemoglobin level above 11 gm per dl.

5. If she is having beta thalassemia minor or intermedia, than she can live normally. Or else in beta-thalassemia major average life span is 25 to 30 years. I hope I have answered your question. Let me know if I can assist you further.

Thank you doctor,

I have attached my mother's report. According to report does she have minor thalassemia?

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Hello,

Welcome back to icliniq.com.

The attached HPLC (high-pressure liquid chromatography) report of mother not showing beta thalassemia (attachment removed to protect patient identity). So as per this report beta thalassemia not present in mother. However, iron deficiency anemia can give a false negative result for beta thalassemia. In such case after anemia correction, repeat testing is necessary. I hope I have answered your question. Let me know if I can assist you further.

Thank you doctor,

Suppose if bone marrow transplant is unsuccessful in first attempt operation, can we perform surgery again? Do I need a donor? Or by paying proper fees, the hospital will arrange themselves?

#

Hello,

Welcome back to icliniq.com.

If bone marrow transplantation fails and unsuccessful, like graft rejection occurs than medication can be given for that. The second time bone marrow transplantation is risky if rejection occurred the first time. However, the decision can be individualized depending on examination and detailed evaluation.The donor should be HLA matched, and the hospital can arrange a suitable donor for you.

You can discuss all these regarding transplantation to the concerned hospital where such bone marrow transplantation is done regularly. I hope I have answered your question. Let me know if I can assist you further.


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