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Thalassemia is a hemolytic disorder i.e. it is related to blood. Thalassemia is caused by abnormalities in synthesis of chains of hemoglobin, hence, Thalassemia result in synthesis of abnormal hemoglobin in RBCs. Thalassemia...
What is Thalassemia?
Thalassemia is a hemolytic disorder i.e. it is related to blood. Thalassemia is caused by abnormalities in the synthesis of chains of hemoglobin, hence, Thalassemia results in the synthesis of abnormal hemoglobin in RBCs. Thalassemia is a hereditary disorder, meaning, it can pass from parents to progeny. Hemolysis leads to the destruction of RBCs. Excessive hemolysis leads to anemia in people suffering from Thalassemia. Though not all types of Thalassemia cause hemolysis, some are asymptomatic too.
What are the types of Thalassemia?
Thalassemia can be classified into either on the basis of a defective chain of hemoglobin or on the basis of the severity of the disorder.
Based on which chain of hemoglobin is abnormal, Thalassemia can be classified into:
Alpha Thalassemia
As the name suggests, the alpha chain or globins of hemoglobin is not correctly synthesized in Alpha Thalassemia. It occurs because of defective genes which are responsible for synthesis of alpha globins.
Beta Thalassemia
In this type, the beta chain or globins of hemoglobin is not correctly synthesized. It occurs because of defective genes which are responsible for synthesis of beta globins.
Further Alpha Thalassemia can also be classified, based on number of malfunctioning genes responsible for synthesis of alpha globins.
What are the types of Alpha Thalassemia?
Alpha Thalassemia refers to a group of disorders occurring due to the inactivation of alpha globin genes. There are 4 genes that are responsible for alpha globins synthesis. Alpha globins genes are located on chromosome 16.
There are 4 types of Alpha Thalassemia:
- Alpha Thalassemia Silent Carrier
- Alpha Thalassemia Trait
- Hemoglobin H disease
- Alpha Thalassemia major
Alpha Thalassemia Silent Carrier
Looking at the genotypic aspect, 3 genes are functional but 1 of the 4 genes responsible for alpha globins synthesis is defective.
Alpha Thalassemia Trait
This type is characterized by 2 functional genes responsible for alpha globins synthesis in the person suffering from alpha Thalassemia. Alpha Thalassemia Trait can be cis- type or trans- type, meaning the two functional genes may be present on the same chromosome (cis- type) or on different chromosomes (trans- type).
Hemoglobin H disease
This type is characterized by only 1 functional gene out of the 4 genes responsible for synthesis of alpha globins.
Alpha Thalassemia major
This type is characterized by deletion of all 4 genes responsible for synthesis of alpha globins.
What are symptoms of Alpha Thalassemia?
1. Alpha Thalassemia Silent Carrier
As the name suggests, silent carrier means that the person will not show any symptoms of Thalassemia. Alpha Thalassemia Silent Carrier is asymptomatic.
2. Alpha Thalassemia Trait
A person suffering from alpha Thalassemia trait upon blood examination will show the following:
- Microcytosis – size of RBCs is smaller than normal
- Erythrocytosis – a condition in which the individual suffering has a high concentration of RBCs in blood
- Hypochromia- the color of RBCs is lesser than normal
- Mild anemia
3. Hemoglobin H disease
Hemoglobin H disease is usually diagnosed in case of neonates, having hypochromic RBCs. Whereas in case of older children, Hemoglobin H disease is characterized by blood examination having:
- Moderate anemia
- Hypochromia
- Microcytosis
- Fast migration of hemoglobin on electrophoresis
- Red cell fragmentation
4. Alpha Thalassemia major
It is the most severe form of Alpha Thalassemia. It is also called as Hydrops Fetalis.
The diagnosis of Alpha Thalassemia major is usually made in the last trimester of pregnancy through ultrasound.
The mother also exhibits toxemia.
This condition can often lead to postpartum hemorrhage which is severe and the child is usually stillborn.
Which lab is the best for getting tests for diagnosis of Alpha Thalassemia
There are many good options available in Delhi NCR for getting Alpha Thalassemia test done. However, the best lab for Alpha Thalassemia test as well as many other diagnostic tests done is Ganesh Diagnostic and Imaging Centre. For us, patients come first, hence, patient’s safety and care is our priority!
The price of Alpha Thalassemia test in Delhi NCR varies from lab to lab. The price may also vary upon the type of Alpha Thalassemia test. To get the best deal on getting Alpha Thalassemia test in Delhi NCR, visit Ganeshdiagnostic.com
Currently, Ganesh Diagnostic and Imaging Centre is offering FLAT 50% discount on many tests.
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Why choose Ganesh Diagnostic and Imaging Centre over others?
Although there are many good options in Delhi NCR, but your preference should be Ganesh Diagnostic and Imaging Centre because:
Ganesh Diagnostic and Imaging Centre has NABH and NABL Accreditations which serve as a proof of excellent service and care provided by Ganesh Diagnostic and Imaging Centre to its patients.
Laboratories are equipped with top-notch equipment.
Pathology testing is operational 24x7, 365 days. Patients can rely upon Ganesh Diagnostic and Imaging Centre at any time for service.
Free home sample collection and digitally available reports aid the patients in getting tests done at the comfort of their homes.
Reports are available within 24 hours of sample collection, thereby speeding up the process of diagnosis and further treatment.
Reports are 100% accurate.
The staff at Ganesh Diagnostic and Imaging Centre is skilled and professional.
Ganesh Diagnostic and Imaging Centre is currently giving FLAT 50% OFF on many tests.
Tests are reasonably priced, keeping patient’s welfare and affordability in mind.
Ganesh Diagnostic and Imaging Centre is empanelled with various prestigious government and private organizations such as:
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Frequently Asked Questions (FAQs):
What are the 4 types of Alpha Thalassemia types?
There are 4 types of Alpha Thalassemia:
- Alpha Thalassemia Silent Carrier
- Alpha Thalassemia Trait
- Hemoglobin H disease
- Alpha Thalassemia major
What is the most severe form of alpha Thalassemia?
Alpha Thalassemia major is the most severe type of alpha Thalassemia because all 4 genes responsible for synthesis of alpha globins. As result of this, the infant born is still and the mother suffers excessive bleeding.
How is alpha Thalassemia confirmed?
There are several ways for diagnosing alpha Thalassemia, which differ based on type of alpha Thalassemia. Examination of blood sample for size, number, and color of RBCs acts as an indication of alpha Thalassemia.
At what age is alpha Thalassemia detected?
Different types of alpha Thalassemia are diagnosed at different stages:
Alpha Thalassemia Silent Carrier- Since, these are asymptomatic cases; they are diagnosed only when their off-springs develop Thalassemia.
Alpha Thalassemia Trait and Hemoglobin H disease are diagnosed after blood examination when the individual shows signs of anemia.
Alpha Thalassemia major infants are still born, hence they don’t survive.
