Hemoglobin Variant Analysis

hemoglobin variant analysis

Last Updated December 20th, 2021

What is hemoglobin and what are its functions?

Hemoglobin is the carrier protein in our RBCs (Red Blood Cells) which is responsible for carrying oxygen from the lungs to the rest of the tissues of your body and carries the carbon dioxide from those tissues back to the lungs. Since it’s a product of the immunoglobulin group of proteins, it has a part to play in the enhancing immunity of our body as well.

What’s the structure of hemoglobin and the types of hemoglobin?

Hemoglobin, in a normal adult body, is made up of globulin (a kind of protein) chains. There are two alpha globulin chains and two beta globulin chains attached to the haem(ferric/iron) group.
In the case of kids, there are no beta chains. It’s only alpha and gamma globulin chains. As the kid grows up, these gamma globulin chains are replaced by the beta globulin chain to form the structure of the adult hemoglobin.

Of all the existing types, the most common types of hemoglobin are:

Hb A (Haemoglobin A):
It forms 95%-98% hemoglobin in an adult body.

Hb A2 (Haemoglobin B):
It forms 2%-3% hemoglobin in the body.

Hb F (Haemoglobin F):
It forms less than 1% of hemoglobin in an adult body. It is mostly developed in the fetus during pregnancy which is replaced later by Hb A in a year or two.

What is the usual quantity of hemoglobin in the human body?

Hemoglobin content varies with gender as well as age factor. Usually, kids have more hemoglobin content than adults. It’s measured in grams/decilitre(g/dL). In adult males, the hemoglobin content ranges from 13.5 g/dL to 17.5 g/dL.

What is the hemoglobin variant?

Abnormal forms and structures of hemoglobin which are inherited by the baby from the parents might cause several blood disorders. These are known as Haemoglobin variants.

How does the hemoglobin variant occur?

Hemoglobin variant occurs when there are any genetic changes associated with the globin protein. The changes in the gene sequence alter the construction of amino acids which build the globin protein chains. This change in the structure of amino acids results in a hemoglobin variant.

What is Haemoglobin variant analysis?

Hemoglobin variant analysis basically refers to the medical tests which are associated with the detection of the hemoglobin variant i.e. it helps in detecting the relevant changes of the genetic sequence(the deletions and the additions of the genetic sequences). The tests mainly show the amount of hemoglobin in the body of a person along with the hemoglobin variants too.

What are the techniques of Haemoglobin variant analysis?

There are various ways and techniques for testing hemoglobin variants. A few are listed below:

Full Blood Count(FBC) Test

This test gives an overview of your total blood count to the doctor. It tells the doctor the RBC(Red Blood Corpuscles) count of your blood and the hemoglobin quantity in them as well. The Mean Corpuscular Volume(MCV) is the measure of the size and the volume of the RBCs which is also determined by this test. A lower level of MCV indicates the initiation of thalassemia. Lack of iron deficiency is detected due to the smaller size of the RBCs. This might be the result of a hemoglobin variant as well which makes the sizes of RBCs smaller than normal RBCs.This condition is called microcytosis.

Blood Film test
 
In this test, a thin layer of blood is smeared on a thin film which is especially stained for the test and it is observed under the microscope by trained laboratory pathologists. The count of the red blood cells, white blood cells and platelets tells the normality and abnormality of the blood sample. This method even determines if the red blood cells are normal or mature. The more the abnormality in the structure of the RBCs, the more are the chances of various blood disorders and the insufficient oxygen supply in the body and iron deficiency.

DNA analysis/genetic testing 

This test helps in determining the genetic changes that happened in the alpha and beta-globin protein chains. The genetic additions and deletions are depicted by this test. This is not done routinely with other blood tests. It is mainly used to detect any rare and new hemoglobin variant.

Is there any preparation needed for the test?

There is absolutely no preparation needed for this test. In case of queries, you can consult your doctor who can tell you more about the guidelines to be followed according to your medical history. 

How will you feel during the test?

This test is absolutely painless if done by the laboratory pathologists who are well trained for conducting these tests. There might be some bleeding associated with it in some cases where the procedure meets a few challenges or limitations like the syringe not coming out after collecting the blood sample, etc. The syringe used to collect the blood sample should be well sanitized in order to prevent any infection associated with it in the future.

When will you get the reports of the test?

The report is released on the very day itself. Sometimes it might take till the next working day morning depending on the laboratory and the diagnostic centers.

How to understand the results?

Consult your doctor with the received reports. The doctor will tell you about the status of your blood reports and if there is any abnormality or any disorder detected, then the doctor will guide you with the follow-up test or check-ups. The doctor will suggest medications if needed.

What is the price of the test in India?

The average cost of this test, in India, ranges from Rs 1000 to 5000 depending on the diagnostic centers and the state and the city in which it is located. The price of this test starts from a very basic amount of 800-1000 and can be much costlier depending on various other elements or factors to be tested further (as per the doctor’s suggestion).

What are the signs and symptoms of having hemoglobin variants in the blood?

There are several signs and symptoms which are associated with a hemoglobin variant. The signs and symptoms might vary since it depends on the presence of the number of variants present as well as the combination of them when more than one hemoglobin variant exists.

– Weakness & fatigue
– Lack of energy
Jaundice
– Pale Skin
– Associated with a lot of pain
– Shortness of breath
Enlarged Spleen
– Growth problems in children
– Susceptibility to colds and influenza gets elevated.
– Upper abdomen pain (due to stone formation in the gallbladder)

Who needs a check-up?

Any person who is showing multiple symptoms that have been mentioned formerly is suggested to take a hemoglobin variant analysis.

Is it important to take this test when you’re pregnant?

Yes, it is very important to get a thorough blood checkup during pregnancy. Since Haemoglobin variant analysis helps in knowing the abnormalities or the structural deformities which are caused due to genetic alterations, it is highly effective in detecting if the mother is a carrier of any genetic disorder like anemia, thalassemia, etc.

Is there any effect on your baby?

No, there is no harmful effect at all on the baby. Rather your baby can be saved from genetic diseases if detected at a proper stage of pregnancy.

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