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Beta Thalassemia: A Blood Disorder

Thalassemia is a group of blood disorder that is inherited from one or both parents through their genes. There are two types of thalassemia which are Alpha thalassemia and Beta-thalassemia. Here we will have a look at Beta-thalassemia.


Beta thalassemia is a blood disorder and is characterized by reduced levels of Hemoglobin, decreased red blood cell production and anemia. Hemoglobin is the iron containing protein in red blood cells that carries oxygen to cells throughout the body.


Beta thalassemia has two main forms: Beta-thalassemia minor and Beta-thalassemia major. Beta thalassemia minor is also called as beta-thalassemia trait or beta-thalassemia carrier. Individuals with beta-thalassemia minor do not develop symptoms basically, they are asymptomatic they may live life by never knowing that they carry any altered gene for the disorder until screening is done for the test. Beta thalassemia major also called Cooley’s Anemia is the most severe form of beta-thalassemia. Individuals with beta thalassemia major may need a regular blood transfusion, repeated blood transfusions may develop excess levels of iron in the body. Iron overload may cause various symptoms but can be treated with medications. Affected infants may show symptoms within two years after birth which can be bone deformity, enlarged spleen, slow growth, etc. even then some may live a longer life but some may die with this condition.


Beta Thalassemia, Thalassemia, Genetic disorder, Genetic counseling, Thalassemia screening
Figure: Inheritance of Thalassemia


Beta thalassemia is caused by mutations in the HBB gene which is important for the production of hemoglobin. An individual with one mutated HBB gene and one normal gene is beta-thalassemia minor known as heterozygous state whereas an individual with beta-thalassemia major have mutation in both HBB gene and shows homozygous state of mutations. Beta thalassemia is hereditary disorder which means it can be passed from one generation to another so parents with beta-thalassemia minor having one mutated gene each in both of them have 25% chance of having a child with beta-thalassemia major by passing one mutated gene from mother and another mutated gene from father to the child, 50% chance of having a beta thalassemia minor child by passing one mutated gene from any one parent either from mother or father and 25% chance of having anormal child by passing normal gene from both parents. This form of inheritance is referred as an autosomal recessive pattern. Also, there is a chance of child having sickle cell thalassemia when one parent is sickle cell trait and another parent is beta-thalassemia trait.


So matching horoscopes for marriage won’t be much use if your health condition is affected which may further affect your whole family life. To prevent your family from having a painful condition better get tested for yourself and your partner for beta-thalassemia by undergoing thalassemia screening with complete blood count and most important Hemoglobinopathy evaluation by HPLC method which will help you to understand if you or your partner is beta thalassemia trait or not. Thalassemia screening will definitely benefit you more than the horoscopes to have a healthy and happy family.



Genetic counseling can help you for taking care of your child having any genetic disorder, during pregnancy and also while planning for a baby. It becomes very important to consult the genetic counselor when you are planning for a baby or during pregnancy with known family history of beta-thalassemia or yourself or your partner being a carrier of beta-thalassemia or having a previous child who has history of beta-thalassemia major so that under the guidance of counselor you can prevent or diagnose your future child with the disorder. Step by step process which is thalassemia screening, genetic counseling and under their guidance proper diagnosis of the test is important for the prevention.


You may obviously think why to choose Lilac Insights because Lilac is one of the leading Genetic Testing Laboratory which will provide you all types of services under one roof. How can it be possible everything under one roof must be surprising to you right, it is true. At Lilac Insights genetic consultation is provided by internationally trained, experienced and BGCI certified genetic counselors to make you understand and inform you about the genetic condition.


Lilac Insights offers thalassemia screening, prenatal screening for the expecting parents to know about the genetic condition of their fetus or unborn child, that’s not it after screening Lilac Insights also provides you different diagnostic tests to confirm your screening results but also to diagnose disorders with chromosomal abnormalities and genetic testing in reproductive genetics and cancer genetics. So you can take an informed decision for yourself and your family.



Shrinidhi Shetty
Lilac Insights Pvt. Ltd.


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