Hereditary Haemochromatosis (HFE): Causes, Symptoms, Diagnosis & Treatment

Hereditary Haemochromatosis (HFE): Causes, Symptoms, Diagnosis, and Treatment Complete article to Iron Overload Disorder | Symptoms, Genetics, Testing, and Management Hereditary Haemochromatosis (HFE) is one of the most common genetic disorders affecting iron metabolism in the human body. Despite its prevalence, it remains widely underdiagnosed due to its slow progression and non-specific early symptoms. This condition leads to excessive absorption and accumulation of iron in vital organs such as the liver, heart, pancreas, joints, and skin. Over time, this excess iron can cause serious and potentially life-threatening complications. In this comprehensive article, we will explore what Hereditary Haemochromatosis is, how it develops, its genetic basis, symptoms, diagnostic methods, treatment options, lifestyle modifications, and long-term outlook. This article is designed to be informative, easy to understand, and valuable for patients, caregivers, medical students, and hea...

Collection of Specimen Blood

 Collection of Specimen

Introduction

The specimen which are investigated for various biochemistry analysis or diagnosis of disease to monitor treatment or for research purpose they are-

  1. Blood 
  2. CFS ( Cerebrospinal Fluid )
  3. Gastric juice 
  4. Calculi
  5. Pleural Fluid
  6. Urine
  7. Saliva
  8. Sweat
  9. Pericardial fluid
  10. Sputum
  11. Stool
For the successful isolation of any pathogen or determination of any particular biomarker in a sample following things are dependent -
  1. Types of specimen 
  2. Collection time
  3. Method of dispatch so the laboratory storage 
  4. Aseptic flandling

Specimen Collection 

  1. Specimen should be collected under aseptic conditions
  2. It is necessary to avoid contamination discharge with skin contact.
  3. Specimen should be collected in dry spoil containers.
  4. Specimen must be clearly labelled with
  • Patient name 
  • Date 
  • Time 
  • Word
5. Each specimen should be collected according to requirement for the investigation.
6. Some Specimen are labelled with high risk and must be with extracare. 
Specimen-collection-and-extracare

Collection procedure for the various sample 

1. Blood
Collect about 10ml of blood by using steril syringe and needle, During the collection of blood follo precaution takes place -
  1. Before collection of blood we use should verify the identify of patient.
  2. Make the patient comfortable and give assurance to avoid tention.
  3. Make sure that the patient fasting ( 12 hours fasting) where it is necessary.
  4. Patient should comfortably seated or suprine.

Procedure

  1. Clean the skin with 70% isopropanol and allow to dry .
  2. A tourniquet is applied 4-6 inch above the size . Where you want to puncture to abstract the retum venus blood to the heart and to make vein prominent.
  3. Ask the patient to make fit to make vein more purpable and prominent.
  4. A sterile disposable Needle with syringe should be used to withdraw . Slightly if blood appears the tourniquet is released.
Notes
Never place to urniquet longer than 1min. When the required amount of blood drawn into the Syringe a small cotton pack with spirit is placed on the arm to stop the bleeding.

5. Collect the sample into a clean container.

Types of tubes / vial 

Following colour coded vial are used according to specimen types :

1. Grey.                     Sodium fluoride
2. Green.                  Sodium heparin
3. Purple.                 EDTA
4. Red                       Plain vial
5. Golden Yellow.   Gel barrier for serum
6. Lemon Yellow.   Acid-citrate dextrose
7. Light blue.          Sodium uitrate

> If we use serum sample collect the blood in plane vial allow to clot will be retreat and serum will be separated.
> If we require plasma for investigation clotting can be prevented by placing the blood into a vial containing Anticoagulant mix gently and then centrifuge to separate plasma.


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