Thalassemia 101, please!

My 78 year old mother is a first generation Sicilian-American who was diagnosed several years ago by a Hematologist after being anemic for many years. In early adulthood, my sister was diagnosed by her GP after blood tests revealed high iron levels, and small and low red blood cell count. And now at the age of 50, I recently had routine blood work done for an insurance screening that revealed high Total Iron of 235 ug/dL, which was a surprise to me at this point in my life. It seems that any other results to do with my red cells are in the normal range: my RBC is  4.16, MCV is 97, MCH is 32.2, and MCHC is 33.3.  RDW is just slightly low at 12.2. I have been a vegetarian my entire adult life, do not take multivitamins with iron, and do not eat fortified cereals or breads, so the iron count is very curious.

I am planning to visit my GP to discuss, but tried to research on the web first and have only become frustrated. I’m wondering if it’s possible that I also have Thalassemia, even though I am not anemic and my red cells seem in the normal range. I have three teenaged children and am also curious what this could potentially mean for them. Any information is appreciated.

Hi TJH,

Although your mother and sister may be thal carriers, it is highly unlikely in you because of the normal size red blood cells. Your MCV is far higher than one would see with thal minor. However, because your iron is inexplicably high, you should be tested for the iron loading disorder, hemochromatosis which causes more iron than normal to be absorbed by your gut. Your sister may have both hemochromatosis and thal minor, but testing would be needed. Testing for hemochromatosis involves a gene test. Thal minor can usually be diagnosed by a combination of a complete blood count and a hemoglobin electrophoresis test.