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Hemochromatosis

Infertility as a result of hemochromatosis

05/13/2008

Question:

I have two questions. I hope you can help me.

I`m a 36 year old female of 100% Irish/Celtic ancestry. I was diagnosed with premature ovarian failure at 34 after one healthy pregnancy and one miscarriage (a partial hydatiform mole). In the work-up for this disorder, I had the genetic test for hemochromatosis performed and discovered I am a carrier for hemochromatosis with one copy of the C282Y mutation.

I have been tested with the typical hemochromatosis blood tests and they ran a hepatic function test but all my levels were in the normal range except I had low iron. I have many symptoms that are associated with hemochromatosis (joint pain, heart palpitations, , fatigue, infertility, low libido, depression, irritability . . .) but these are also typical of POF. The doctors I have seen (not specialists in hemochromatosis) have ruled hemochromatosis out as a cause for my infertility.

Question 1: What I`m wondering is if it is as simple as this. Could I still have iron loaded in my tissues even if it isn`t showing up in my blood? Could I have low serum iron and still have hemochromatosis? I know carriers aren`t usually affected but is it possible?

I also have some GI issues (suspected gluten sensitivity OR celiac disease without confirmation of biopsy, gene, antibodies diagnosis- based on nutritional deficiencies)and I can`t help but think that this might make my iron profile kind of copmlicated.

Question 2: My four-year-old daughter has 2 copies of the C282y and we have already taken her to Columbus Children`s Hospital for a follow-up. They are in the process of trying to find an appropriate specialist for us to follow-up with (they were not knowledgeable about it). Question 2: Who would you recommend we follow-up with? We live in Columbus, Ohio

Family History My father and paternal aunt both died suddenly and from unexplained causes at 60. My father had atrial fibrillation and arthritis but no history of other health problems. He died in his sleep. He donated blood regularly (was a member of the gallon club) and I can`t help wondering if there was a reason for this he never shared with us. My aunt was healthy until she collapsed and died suddenly. We don`t have either of their health records.

Answer:

Thank you for visiting NetWellness. On this site, we try to answer general questions about health but cannot diagnose or recommend treatment. You appear to have some very specific questions about your family history and hemochromatosis.

Since if you live in Columbus, Ohio, we would be happy to offer you consultation at our hematology clinic.  At that time we would be able to discuss your concerns in detail and answer your questions, although I do not know of a pediatrician who handles childhood hemochromatosis cases.  The link below may be helpful.

Feel free to contact Daphne Lockett at 614-293-9441.

Regarding Question 2: Your daughter inherited one mutation from you and one from her father. A pediatric hepatologist might be the best option for your daughter, however, most individuals who are predisposed to hereditary hemochromatosis won't require phlebotomy until they are much older than your daughter is currently.

I am concerned about your family history of sudden death in two individuals that may be cardiac-related. You may wish to consider seeking a consultation with the Hereditary Heart Rhythm Disorders Clinic at Ohio State's Ross Heart Hospital, http://www.internalmedicine.osu.edu/genetics/8813.cfm.

 

Related Resources:

Juvenile Hemochromatosis

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

Mark   Wurster, MD Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University

Amy Curry Sturm, MS, LGC Amy Curry Sturm, MS, LGC
Associate Professor of Human Genetics
College of Medicine
The Ohio State University