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Hemochromatosis & AAT

Blood Cancers & Disorders | Last Active: Sep 10, 2022 | Replies (5)

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@lclark918

I see a oncologist/ hematologist and have also been diagnosed as follows:
Monoclonal paraproteinemia, IgG-kappa
Hereditary hemochromatosis associated with HIS63Asp gene mutation
Vitamin B12 deficiency
Gastric achlorhydria
I’ve had extensive blood work done and my doctor acts like there is no concern. I recently received the results posted earlier and I am scheduled to go back to my physician soon but usually I leave with out really understanding the results. I’ve had other blood work done recently and my Bun level is high along with creatinine, albumin being high as well with kidney function declining to 40 and Protein/Creatinine Ratio being 228 mg/g. It also showed phosphorus, blood, bacteria, protein, mucous and Hyaline Casts in urine. I don’t know if all the test results has to do with the hemochromatosis or AAT deficiency or the blood disorder. I get multiple testing but I don’t seem to fully understand the results because they are with multiple doctors who do not want to interpret another doctors test results. Does anyone have any insight? becky@1024 thank you for responding, have you had any test results mentioned? I’m praying your blood disorder stops progressing I know it must be scary! I’m just wondering if mine is progressing as well!?

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Replies to "I see a oncologist/ hematologist and have also been diagnosed as follows: Monoclonal paraproteinemia, IgG-kappa Hereditary..."

@lclark918, Alpha-1-antitrypsin (AAT) is a protein produced in the liver that protects the body's tissues from being damaged by infection-fighting agents released by its immune system. In alpha-1 antitrypsin deficiency, the body’s normal production of AAT is reduced.

Your report states "AAT variants are genetically determined and can be associated with lung and liver injury. ... AT phenotype analysis is suggested." This means that the lab suggests that you get tested further for alpha-1-antitrypsin because it can lead to lung issues. If you have the AAT variant, it may be inherited and passed on to children, if you have any.

Definitely discuss this with your doctor at your next appointmen.