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What Causes Pernicious Anemia And Thalassemia?

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Posted on Wed, 14 May 2014
Question: Hi,

I am a biracial woman of African and European descent with SLE Lupus. I am confirmed by DNA tests that I am 62% African and 38% European. My European ancestry consists of the following: Irish 6%, Greco-Italian 4% Scandinavian 2% Western European (French, and Dutch), and the Iberian Peninsula (Spanish/Portuguese <1%). I have several blood disorders related to lupus, but I am only curious about two of them : I have confirmed pernicious anemia (confirmed by bone marrow biopsy), in which I have to get regular Vitamin B12 injections (my mother also has it, and my grandmother died from gastric cancer). I also have confirmed Thalesemia. I didn't know that I even had any Greek and Italian ancestry until I took this DNA test. Is it possible, to have an inherited genetic defect from my Scandinavian and Greco-Italian ancestry to be able to cause the pernicious anemia, and the thallesemia, even though these diseases seem to be more common in Northern Europeans and Greeks/Italians? How could such as small percentage of these ancestries cause these particular blood disorders in my form of lupus?

My mom and myself, greatly resemble people of Mediterranean or North African descent, as well as most of the people on my mom's side of the family (my grandmother looked Nordic, however).

Thanks!

XXXXXXX
doctor
Answered by Dr. Shailja Puri (2 hours later)
Brief Answer:
Kindly, refer to detailed answer

Detailed Answer:
Hello,
Thanks for posting your query on Healthcaremagic.
Pernicious anemia is an autoantibodies directed against a specialised cell in stomach called parietal cells.
Autoimmune disorders are common in females and they may be inherited.
In your case too, the disease is present in female members.
Thalassemia is caused by a point mutation in the genes which may also be inherited.
The genetic transmission of diseases is complex.
It is not easy to predict which character will express in which generation and to what extent.
It require elaborate study of the genetic study of the multiple generation.
This exercise I am sure is not feasible because this requires preservation of genetic material of all the previous generations.
SLE is also an autoimmune disorder.
There is tendency of various autoimmune disorders to co-exist.
You need to manage all these conditions by taking appropriate medications.

If you have more queries, I will be glad to answer.
Dr Shailja P Wahal
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Yogesh D
doctor
Answered by
Dr.
Dr. Shailja Puri

Pathologist and Microbiologist

Practicing since :2006

Answered : 9705 Questions

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What Causes Pernicious Anemia And Thalassemia?

Brief Answer: Kindly, refer to detailed answer Detailed Answer: Hello, Thanks for posting your query on Healthcaremagic. Pernicious anemia is an autoantibodies directed against a specialised cell in stomach called parietal cells. Autoimmune disorders are common in females and they may be inherited. In your case too, the disease is present in female members. Thalassemia is caused by a point mutation in the genes which may also be inherited. The genetic transmission of diseases is complex. It is not easy to predict which character will express in which generation and to what extent. It require elaborate study of the genetic study of the multiple generation. This exercise I am sure is not feasible because this requires preservation of genetic material of all the previous generations. SLE is also an autoimmune disorder. There is tendency of various autoimmune disorders to co-exist. You need to manage all these conditions by taking appropriate medications. If you have more queries, I will be glad to answer. Dr Shailja P Wahal