Sign-in to Ask A Doctor - 24x7
OR
Sign in with Google
Last Physical XXXXXXX 2019 Showed Abnormally High RBC, HcT, Hgb,
Question: Last physical XXXXXXX 2019 showed abnormally high RBC, HcT, Hgb, also high alkaline phosphatase, ALT and gamma globulin transference. Also have noticed tingling and nerve issues in my hands (thought it was from power washing a lot), hair growth on legs dramatically lessened, pain in hands (arthritis most likely) more noticeable, frequent nocturnal urination but A1c 5.9, fasting glucose is 90. Retired from work as retail pharmacist 18 months ago. Prior yearly physicals were always normal values. Something is going on. Primary care does not seem concerned. I have requested a referral to a hematologist. BP normal. Weight 145. 5’2”
Brief Answer:
HFE mutation suggests primary hemochromatosis
Detailed Answer:
Hello,
Thanks for posting your query on 'Ask A Doctor' service.
Presence of two mutations in the HFE gene is suggestive of primary hemochromatosis.
You should consult your hematologist for management of hemochromatosis.
Hemochromatosis is a condition wherein the body absorbs more than the required quantities of iron.
High levels of iron in the body can lead to high hemoglobin (Hb), high red blood count (RBC count) and high hematocrit (HCT).
Mutations in the HFE gene cannot be corrected, however, hemochromatosis can be managed by phlebotomy or bloodletting to keep the iron levels within the normal biological range.
Fatty liver can lead to elevated levels of liver enzymes like ALT.
However, alkaline phosphatase and gamma-glutamyl transferase are elevated in case of alcohol uptake. Since you are non-drinker, thus other possibilities need to be considered.
Excess iron in the body can get deposited in various organs and cause dysfunction.
Excess iron can deposit in joints also leading to arthritis-like pain.
I suggest you consult your physician for general examination and relevant investigations for the entire body after consulting hematologist to look for any dysfunction of any other organ.
In the case of more queries, I will be glad to answer.
Thanks and take care
Dr. Shailja Puri
HFE mutation suggests primary hemochromatosis
Detailed Answer:
Hello,
Thanks for posting your query on 'Ask A Doctor' service.
Presence of two mutations in the HFE gene is suggestive of primary hemochromatosis.
You should consult your hematologist for management of hemochromatosis.
Hemochromatosis is a condition wherein the body absorbs more than the required quantities of iron.
High levels of iron in the body can lead to high hemoglobin (Hb), high red blood count (RBC count) and high hematocrit (HCT).
Mutations in the HFE gene cannot be corrected, however, hemochromatosis can be managed by phlebotomy or bloodletting to keep the iron levels within the normal biological range.
Fatty liver can lead to elevated levels of liver enzymes like ALT.
However, alkaline phosphatase and gamma-glutamyl transferase are elevated in case of alcohol uptake. Since you are non-drinker, thus other possibilities need to be considered.
Excess iron in the body can get deposited in various organs and cause dysfunction.
Excess iron can deposit in joints also leading to arthritis-like pain.
I suggest you consult your physician for general examination and relevant investigations for the entire body after consulting hematologist to look for any dysfunction of any other organ.
In the case of more queries, I will be glad to answer.
Thanks and take care
Dr. Shailja Puri
Above answer was peer-reviewed by :
Dr. Arnab Banerjee
Since the liver per ct scan shows steatosis, can that mass be mistaken for iron deposits? Doctor did not check ferritin levels. Could increase in urinary output reflect iron deposits? Creatinine and eGfr alre all normal.
Brief Answer:
Liver steatosis cannot be mistaken for iron deposits.
Detailed Answer:
Hello and welcome again,
Liver steatosis cannot be mistaken as iron deposits.
Urine can be tested for hemosedrin to test for iron deposits in urine.
Normal creatinine and eGFR suggest normal renal functions.
Thanks and take care
Dr Shailja Puri
Liver steatosis cannot be mistaken for iron deposits.
Detailed Answer:
Hello and welcome again,
Liver steatosis cannot be mistaken as iron deposits.
Urine can be tested for hemosedrin to test for iron deposits in urine.
Normal creatinine and eGFR suggest normal renal functions.
Thanks and take care
Dr Shailja Puri
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Raju A.T
Answered by
Get personalised answers from verified doctor in minutes across 80+ specialties
