HomeAnswersInternal Medicinedyskeratosis congenitaHow to treat low blood and bone marrow levels in a 13-year-old girl?

My daughter's blood and bone marrow levels are very low. Kindly help with a solution.

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The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.

Medically reviewed by

Dr. Vinodhini J.

Published At November 29, 2020
Reviewed AtNovember 29, 2020

Patient's Query

Hello doctor,

This query is for my 13-year-old girl. She has a weakness, and CBC revealed poor results. We had a consultation at a hospital, and the doctor gave her Danazol 200 for two months, Quercetin and Renerve plus. The test result suggests aplastic anemia. MMC sensitivity was positive.

We revisited the doctor. Danazol was stopped as blood count improved. MedGenome test was given. Quercetin and Renerve plus prescribed. MMC sensitivity test was negative. MedGenome test was done to rule out Fanconi. And the test result suggested no Fanconi. Additional findings: DKC with uncertain significance.

After that, lockdown began, which disrupted regular check-ups of CBC. CBC showed low numbers (Hb 6.2, platelets 70). No further medications were given. After three weeks, as clinical conditions changed, CBC revealed low platelets at 60 and Hb 6. Danazol 200 two times and Prednisolone 20 mg were prescribed along with Renerve Plus and Antoxoid. SGPT went high (1200) in 10 days, and platelets came to 50. Danazol was stopped and continued with Prednisolone. Her CBC got improved.

Recently her Hb fell to 6.5 again. Platelets have been stable at 80 for the last few months. Her current prescription is Wepox 2000 per week for six weeks (her weight is approx 65kg), along with Prednisolone 10 mg. Please help.

Answered by Dr. Sugreev Singh

Hi,

Welcome to icliniq.com.

I can understand your concern. I have checked the reports (attachment removed to protect patient identity), and as per reports, she is not sensitive to Mitomycin C.

Mitomycin C is used to treat various unwanted cell growth or tissue growth, such as in the stomach and pancreas. Dyskeratosis congenita is a condition where our bone marrow fails to produce enough blood cells. So maybe your doctor wants to start Mitomycin C treatment. That is why they checked whether she is sensitive to it or not.

Can you please tell me what symptoms she has currently? What is her current blood values? When did you carry the last blood test?

Patient's Query

Thank you doctor,

She is clinically doing well. Her last CBC report is attached.

Answered by Dr. Sugreev Singh

Hi,

Welcome back to icliniq.com.

I have seen the report (attachment removed to protect patient identity).

As we can see, her blood levels are still low, so further treatment is required, and it can be related to dyskeratosis congenita. They will prefer a bone marrow biopsy for further testing, which will help to rule out or confirm the diagnosis. I would suggest you continue with the treatment she is currently taking because frequent changing of medicine can worsen the conditions.

Patient's Query

Thank you doctor,

I have attached bone marrow biopsy report, MedGenome report and few other reports. One of the observations is the genetic report does not conclusively prove DKC. Could you please throw some light?

Answered by Dr. Sugreev Singh

Hi,

Welcome back to icliniq.com.

Thank you for attaching the reports (attachment removed to protect patient identity).

I have checked your reports. Even though it does not prove but, because she is facing the problem since birth, they have mentioned it is congenital. May be due to some deficiencies in pregnancy time or injections that led to such conditions that her bone marrow did not develop properly, and they are failing to produce enough blood cells. So when some diseases persist from birth, they term it as congenital.

And other thing is treatment depends on severity. As you mentioned, she is doing well, so first may be a doctor will try with Mitomycin C, and if it fails, then they might go for a bone marrow transplant. Bone marrow transplant will be done once she becomes around 15-17. So please rely on the doctors and if any other doubts, please let me know.

Patient's Query

Thank you doctor,

Can you please elaborate on Mitomycin C? What is it? How does it work?

Answered by Dr. Sugreev Singh

Hi,

Welcome back to icliniq.com.

If not used previously, Mitomycin C needs to check the sensitivity of it, which is why they did the MMC test. And it is a chemotherapeutic drug used in various cancers such as the stomach and pancreas. But in your case, the problem is with the bone marrow, so this drug can bind with other enzymes and destroy abnormal cells and destroy them.

Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. Sugreev Singh
Dr. Sugreev Singh

Internal Medicine

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