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Anaemia, Sickle cell disease, thalassemia, other Haemoglobin disorders
Overview
Haemoglobin (Hgb) is a protein present in your blood cells responsible for carrying out the vital task of transporting oxygen from your lungs to the rest of the body. Hgb carries iron that holds oxygen, hence making it an essential part of your blood. If your body does not contain enough Haemoglobin, your cells will fail to receive enough oxygen.
Specific genetic mutations can change the shape or amount of red blood cells present in your body. These mutations are rare and result in Haemoglobin disorders or Haemoglobinopathies. Some diseases can be severe, while others may not cause significant clinical symptoms.
The shape and size of your red blood cells, along with the quantity, are essential to ensure that every cell in your body gets enough oxygen. The red cell structures ensure that the cells themselves use very little oxygen. This allows most of the oxygen to be carried freed into the tissue. The RBCs have a biconcave shape that helps them exchange oxygen at a consistent rate over the most significant area possible.
The usual shape of the red cells allows them to be flexible enough to squeeze through blood vessels. Changes in the form of your cells can make it harder for the RBCs to flow through the blood vessels. This can cause severe complications if left untreated.
A Haemoglobin electrophoresis test is a blood test that measures the level of different types of Haemoglobins present in your blood. It analyses and identifies the type of Haemoglobins in your body. Abnormal mutated Haemoglobin type can result in too little oxygen reaching your organs which can lead to severe consequences.
Symptoms that call for an HB electrophoresis test include fatigue, pale skin, jaundice (a medical condition that causes yellowing of your eyes and skin) and stunted growth. Newborn babies also undergo a Haemoglobin electrophoresis test as a part of newborn screening. The results of HB electrophoresis help diagnose Haemoglobin disorders that can be treated if identified at an early stage.
A study held in West Bengal over ten years reported 12.17% of patients with HB abnormalities. Amongst them, beta-thalassemia was the most common abnormality found, affecting 4.60% of patients. Along with that, around 3.02% of patients were affected by the HBE trait. Another screening in Madhya Pradesh used the HB electrophoresis test to detect Haemoglobin disorders. 76.7% of participants were reported to have Anaemia with the prevalence of sickle cell traits in 10.7% to 15.6% of patients.
Other names of the HB Electrophoresis test
- HB ELP
- Sickle cell screen
- HB electrophoresis
- Abnormal haemoglobin study
What does the HB electrophoresis test detect and measure and who is it prescribed to?
The HB electrophoresis test measures the levels and types of different Haemoglobin.
A Haemoglobin electrophoresis test is prescribed when a person is experiencing the following symptoms:
- Weakness
- Fatigue
- Lack of energy
- Jaundice
- Pale skin
- Severe pain
- Shortness of breath
- Enlarged spleen
- Stunted growth in children
- Muscle weakness
- Trouble concentrating
- Fast heartbeat
- Dizziness
- Cold hands and feet
Some conditions for which an HB electrophoresis test can be prescribed are:
- Anaemia
- Thalassemia
- Sickle cell disease
- Hemolytic Anaemia
- Other Haemoglobin disorders
- Natal screening
- Persistent low haemoglobin
Couples who are at risk of giving birth to a child with Haemoglobin disorder are also advised to take the HB electrophoresis test. If you have a genetic predisposition towards the disease, the doctor may advise you of the test as a part of routine screening.
If you are diagnosed with a Haemoglobin disorder, you may be asked to get the test done regularly. This will help the doctor monitor your Haemoglobin levels and decide the effectiveness of the treatment plan.
Ranges
The result of the Haemoglobin electrophoresis test reports the types and amount of Haemoglobin present. For adults, the normal range of Haemoglobin falls in:
Type of Hgb | Normal Percentage |
HgbA1 | Around 95-98% |
HBA2 | About 2%-3% |
HgbF | 2% or less |
The result of HB electrophoresis result can reveal the presence of abnormal Haemoglobins such as:
- HB S
- HB C
- HB E
- HB F
- HB H
- HB Barts
- HB D
- HB G
- HB J
- HB M
Test Result Interpretation
The results of the Haemoglobin electrophoresis test will assess the types of Haemoglobin present in your blood and individually evaluate their values. Depending on the evaluation of the HB electrophoresis test, your doctor will make a final diagnosis. The testing may help detect thalassemia by detecting the presence of Haemoglobin H and HB A2 or HB F.
A slightly decreased level of HB A and a moderate amount of HB S may indicate the presence of the Sickle cell trait. An HB electrophoresis test result with a large number of HB S and increased HB F with no HB A is also diagnosed as Sickle cell disease.
The presence of the majority of HB C and no HB A indicates the diagnosis of Haemoglobin C disease. The varying levels of Haemoglobins will help your doctor give you a final diagnosis. You may be asked to take some further tests to confirm a specific diagnosis.
Sample Type
The result of an HB electrophoresis test is evaluated through a blood sample and analysis of the levels and types of Haemoglobins present in the blood.
Test Preparation
The Haemoglobin electrophoresis test is relatively simple and doesn’t require any preparation. A healthcare provider will clean the site with a disinfectant swab and insert a small needle with an attached tube into your arm or hand. When enough blood has been drawn, they’ll gently remove the needle and cover the area with a gauze pad. The collected sample will be sent for the test, where your blood sample will be compared to a healthy sample to detect which type of Haemoglobins are present in your blood. Inform your doctor if you are taking iron supplements or medications for iron deficiency Anaemia/ history of any blood transfusion in the past.
Test Inclusions: What parameters are included?
A haemoglobin electrophoresis test uses a blood sample and runs an electric current through the sample. This leads to the separation of normal and abnormal haemoglobin types. The HB electrophoresis test can analyse the following parameters:
- Haemoglobin A: This is the most commonly found haemoglobin in healthy adults. An abnormal level of HgbA can indicate the presence of thalassemia (an HB disorder in which the body fails to produce enough haemoglobin).
- Haemoglobin F: This is called fetal Haemoglobin. This type of HB is found in growing fetuses and newborn babies. The fetal Haemoglobin is soon replaced by Haemoglobin A. Only a minuscule amount of Haemoglobin F is produced after birth. Diseases such as sickle cell can result in abnormal types of Haemoglobin and high levels of Haemoglobin F.
- Haemoglobin S: This Haemoglobin is the most commonly found abnormal Hgb. It indicates the presence of sickle cell Anaemia. Sickle cell disease is a genetic disease that causes the body to produce sickle-cell-shaped cells instead of the usual biconcave shape. The sickle cells are stiff and get stuck in the blood vessels since they lack the flexibility of healthy red cells. This leads to severe and chronic pain and infections.
- Haemoglobin C: This type of Haemoglobin is caused by genetic mutation and fails to carry oxygen well. It can cause a minor amount of hemolytic Anaemia (Anaemia caused due to the destruction of red cells) and result in fatigue, weakness and enlargement of the spleen.
- Haemoglobin E: This type of Haemoglobin is commonly found in people of Southeast Asia. This typically doesn’t result in any symptoms or produces mild symptoms of Anaemia.
How frequently should you take this test?
Doctors advise Haemoglobin electrophoresis in case you display signs and symptoms of Anaemia or other Haemoglobin disorders. All babies should be given the HB electrophoresis test to screen for any HB abnormalities early on. You should also get the Haemoglobin electrophoresis test if you are at a high risk of giving birth to a child with sickle cell disease or other Haemoglobin disorder. People with a family history of blood disorders are recommended to have a Haemoglobin electrophoresis test.
The frequency of these screenings depends on your condition and the chosen treatment plan. If you are diagnosed with an HB disorder, your doctor will recommend you take the test frequently to determine the effectiveness of the treatment plan. Doctors also recommend the HB electrophoresis test as a part of routine physical examination.
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