Abnormal Haemoglobin Studies Hb Variants Blood Test50+ booked in last 3 days
Abnormal Haemoglobin Studies are the tests done to assess the 'normalcy' of red blood cells, their hemoglobin level, and types to check for any mutations. This test checks the presence of hemoglobin variants, which are usually inherited and may lead to blood disorders like anemia. Another name of this test is Hemoglobin variant analysis-HPLC.
Frequently Asked Questions
Your doctor may recommend Abnormal Haemoglobin Studies to calculate hemoglobin levels and look for abnormal types of hemoglobin. These tests can be useful for the following reasons:
- As part of a routine checkup: Your healthcare provider may have your hemoglobin investigated to follow up on a complete blood test during a routine check-up.
- To diagnose blood disorders: This test is done if you’re showing the symptoms of anemia, which could be a sign of disorders including:
- Sickle cell anemia
- Polycythemia vera
- To monitor treatment: The test is done to analyze your levels of the different types of hemoglobin if you are being treated for a disorder that causes abnormal types of hemoglobin.
- Screening for genetic conditions:
- Screening for genetic disorders before having children in individuals with a family history of inherited anemias such as thalassemia or sickle cell anemia
- Routine screening for newborns for diagnosing genetic hemoglobin disorders as early detection is highly crucial.
- Prenatal screening for abnormal hemoglobin in high-risk mothers, as a part of genetic counseling.
- Pale skin
- Jaundice (yellowing of skin and eyes)
- Severe pain, that usually occurs in sickle cell disease
- Growth problems (in children).
Haemoglobin is an iron-rich protein that gives red blood cells (RBCs) their red color. This molecule consists of two parts; an iron-containing portion called haem and four amino acid chains that form the globin portion. The globin chains vary according to their structure and can be of different types,
- Gamma and
- Delta types.
- Haemoglobin A (Hgb A): It is the most common type of hemoglobin found in adults consisting of about 95%-98%. It includes two alpha (?) protein chains and two beta (?) protein chains.
- Haemoglobin A2 (HgbA2): It takes up about 2%-3% of hemoglobin and consists of two alpha (?) and two delta (?) protein chains
- Haemoglobin F (Hgb F): It is also known as fetal hemoglobin, which is found in unborn babies and newborns. This type of Hb is replaced by HbA soon after birth. It composes up to <1% in adults and is formed from two alpha (?) and two gamma (?) protein chains.
- Hemoglobin (Hgb) S: The presence of this type of hemoglobin is indicative of sickle cell disease, an inherited disorder. In this disease, red blood cells are found stiff, sickle-shaped which get stuck in the blood vessels, resulting in severe and chronic pain, infections, and other complications.
- Hemoglobin (Hgb) C: This type of hemoglobin does not have the capability to carry sufficient oxygen and can cause a mild form of anemia.
- Hemoglobin (Hgb) E: This type of hemoglobin is usually can be seen in people of Southeast Asia. This type of Hemoglobin is associated with either no symptoms or mild symptoms of anemia.
The type present is important in the function of hemoglobin and affects its ability to transport oxygen to tissues and organs.
Normal types of hemoglobin are:
The conditions in which HgbA or HgbF are too high or low is known as anaemia.
Abnormal types of hemoglobin are:
These hemoglobin variants occur when amino acids that form the globin protein gets modified due to the genetic changes in the globin genes. These genetic mutations may affect the structure of the hemoglobin, its production rate, its behavior, and/or its stability.
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