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Diagnostic

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Step 1 of 6
Gender*
 
The patient could have anaemia. We recommend visiting this webpage: ENERCA
The patient has normal ferritin values.

Advice
Warning: ferritin values introduced are higher than the reference values for the age and gender indicated.
There is a suspicious of HYPERFERRITINEMIA.
 

Minimum recommended laboratory tests to be done

  • Sideremia, Transferrin, Transferrin saturation, Serum ferritin
  • Hemogram with reticulocytes (only if the patient has also anaemia)
  • Glucose
  • Total, HDL and LDL cholesterol
  • Triglycerides
  • Transaminases (GPT/ALT, GOT/AST), Alkaline phosphatase, GGT and LDH
  • C-reactive protein
  • Serologies hepatitis B and C

Step 2 of 6

Transferrin saturation index (%)

It is recommended to have two transferrin saturation samples
Difference between the two samples is too high, it is recommended to have a third sample

Step 3a of 6

HFE gene C282Y Mutation

Your samples are higher than 45%. Try looking for the C282Y mutation in the HFE gene in homozygous form
 

End of diagnostic

Hereditary Hemochromatosis type 1?

The results may suggest a Hereditary Hemochromatosis type 1. Please look up this guide

Step 3b of 6

Disease assessment (I)

Does the patient have the following common diseases?:
- Metabolic syndrome Ayuda Click for further information
- Inflammation Ayuda Check the level of C-reactive protein. Normal CRP values must be ≤ 5 mg/L
- Liver diseases (viral, alcoholism, others) Ayuda Evaluate viral serologies, alcohol intake and transaminases. Click for further information
- Anaemia Ayuda Evaluate the hemogram
- Secondary Hemochromatosis Ayuda Check the history of transfusions. Click for further information
- Hyperferritinemia with cataracts Ayuda An Ophthalmological revision is required
- Iron poisoning Ayuda Evaluate poisoning by drug overdose

End of diagnostic
The results suggest that your patient may suffer from Metabolic syndrome. Please, look these management and recommendations
The results suggest that your patient may suffer from Inflammation. Please, look these management and recommendations
The results suggest that your patient may suffer from a Liver Disease. Please, look these management and recommendations
The results suggest that your patient may suffer from Anaemia. Please, look these management and recommendations
The results suggest that your patient may suffer from Secondary Hemochromatosis. Please, look these management and recommendations
The results suggest that your patient may suffer from Hyperferritinemia with cataracts. Please, look these management and recommendations
The results suggest that your patient may suffer from Iron Poisoning. Please, look these management and recommendations

Step 4 of 6

Disease assessment (II)

Does the patient have the following less common diseases?:
- Neoplasia Ayuda Click for further information
- Aceruloplasminemia Ayuda Measure ceruloplasmin levels

End of diagnostic
The results suggest that your patient may suffer from Neoplasia. Please, look these management and recommendations
The results suggest that your patient may suffer from Aceruloplasminemia. Please, look these management and recommendations

Step 5 of 6

Recommended diagnostic test to be done

Ferritin values are too high. It is recommended to evaluate the iron stores by liver biopsy or MRI.
 
 
If you really know whether the diagnostic test shows an overload or not, please select the option below. If not, just type the test result in the box above and click continue.

Step 6a of 6.End of diagnostic

Recommendations

It is recommended an annual follow-up.
The patient might have benign hyperferritinemia.
It is recommended to perform a genetic study of the FTL gene.
See specialized genetic laboratories

Step 6b of 6.End of diagnostic

High complexity genetic studies

It is recommended an annual follow-up.
It is recommended to make a complex genetic study.
Genes to study:
  • HFE gene, other mutations than C282Y. Hereditary Hemochromatosis type 1.
  • HAMP and HFE2 genes. Hereditary Hemochromatosis type 2.
  • TFR2 gene. Hereditary Hemochromatosis type 3.
  • SLC40A1 gene. Hereditary Hemochromatosis type 4.
  • TF gene. Hypotransferrinemia.
See specialized genetic laboratories

All information is extracted from these references




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