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

By Sam
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...
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What is the RBC Test?

By Sam

 This test measures the amount of red blood cells, or erythrocytes, in your blood. Red blood cells play a vital role in transporting oxygen from your lungs to your entire body and returning carbon dioxide to your lungs for excretion.

Red blood cell count (RBC) counts are usually performed as part of a complete blood count. This is a diagnostic test for various health conditions.



Why You Need Blood RBC Test Done by Specialist?

The RBC figure is almost always part of the complete blood count (CBC) test.

Tests can help diagnose different types of anemia (low number of RBCs) and other conditions affecting red blood cells.

Other situations that may require RBC counts are:
  • Diseases that damage the blood vessels of the kidneys (Alport syndrome)
  • Cancer of white blood cells (Waldenstrom macroglobulinemia)
  • Disorders when red blood cells drop faster than normal (paroxysmal nocturnal hemoglobinuria)
  • Bone marrow disorders in which the bone marrow is restored to red tissue (myelofibrosis)

Normal Results

The most common grades of RBC are:

  • Male: 4.7 million to 6.1 million cells per microliter (cells / mcL)
  • Female: 4.2 million to 5.4 million cells / mcL
The above grades are typical measurements of the results of these tests. The range of standard values ​​may vary slightly between different laboratories. Some labs use different scales or test different samples. Talk to your health care provider about the meaning of your specific test results.

Meaning of Unusual Results

Higher numbers than most RBCs are possible due to:

  • Smoking cigarettes
  • Problem with cardiac structure and function at birth (congenital heart disease)
  • Corrmonale failure
  • Dehydration (for example, from severe diarrhea)
  • Kidney tumor (renal cell carcinoma)
  • Low blood oxygen levels (hypoxia)
  • Pulmonary fibrosis (pulmonary fibrosis)
  • Bone marrow transplantation that causes abnormal growth in RBCs (polycythemia vera)
Your RBC rating will increase for a few weeks when you are at the highest point.

Drugs that can increase the amount of RBC include:

  • Gentamicin
  • Methyldopa
Lower numbers for RBCs may be due to:

  • Anemia
  • Bleeding
  • Bone marrow failure (for example, from radiation, toxins, or a tumor)
  • Deficiency of a hormone called erythropoietin (caused by kidney disease)
  • Destruction of RBC (hemolysis) due to transfusion, damage to a blood vessel, or other cause
  • Blood cancer
  • Malnutrition
  • Bone cancer is called multiple myeloma
  • Very low iron, copper, folic acid, vitamin B6, or vitamin B12 in the diet
  • Too much water in the body (excess)
  • Pregnancy
Drugs that can reduce RBC counts include:

  • Chemotherapy
  • Chloramphenicol
  • Hydantoins
  • Quinidine

Accidents

There is a small risk involved in taking your blood. Arteries and veins vary in size from one person to another and from one side of the body to the other. Taking blood from some people may be more difficult than others.

Other risks associated with blood transfusions are minor, but may include:

  • Excessive bleeding
  • Fainting or feeling dizzy
  • Lots of piercing to get veins
  • Hematoma (blood buildup under the skin)
  • Infection (minor risk whenever skin is broken)

Why You Really Need to Take an RBC Blood Test from a Specialist

Doctors order blood tests to check things such as the levels of glucose, hemoglobin, or white blood cells. This can help them detect problems like a disease or medical condition. Sometimes, blood tests can help them see how well an organ (such as the liver or kidneys) is working.

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