Difference between Thalassemia Major, Minor and Alpha Thalassemia : A Genetic Disorder

Diseases scare a being when it gets connected to the serious matters, your life seems short but treatments can save you from death. Due to industrialization, diseases are getting increased day by day and man is rushing to the doctors in order to save his life. Among the tunnel, Thalassemia is one of the vulnerable diseases one can’t imagine even. This disease is more closely related to the blood which is sensitive and scariest. This post will reveal the difference between Thalassemia Major, Thalassemia Minor, and Alpha Thalassemia: A Genetic Disorder.

What is Thalassemia?

Thalassemia is a group of genetic disorders that share a common feature that is the defectiveness of hemoglobin (Hb A), the protein which helps red blood cells to carry and deliver oxygen. In the tunnel, the most common type is beta thalassemia which results in the reduction of the production of normal adult haemoglobin (Hb A). The globin chains play a vital role in this process.  There are two forms of beta-thalassemia, one is major, and the other is minor. Another form of thalassemia is alpha thalassemia.

What is Thalassemia Major?

Thalassemia major is defined as a genetic disorder of hemoglobin synthesis in which beta globin chain synthesis is reduced. It is also known as beta-thalassemia major or Cooley’s anemia. Each individual has 2 beta polypeptide chain genes, one inherited from the mother and one from the father. In abnormal homozygote, both beta chain genes are abnormal (thalassemic) and do not produce a beta polypeptide chain. Such a condition is called beta-thalassemia major.

What is Thalassemia Minor?

Thalassemia minor is defined as a genetic disorder of hemoglobin synthesis in which alpha-globin chain synthesis is reduced. It is also known as beta-thalassemia minor. Each individual has 2 polypeptide chain genes, one inherited from the mother and one from the father. In heterozygote one gene is normal and the other is abnormal (thalassemic) which does not produce a beta polypeptide chain. Such a condition is called beta-thalassemia minor. In such a person normal gene produces enough beta chains to maintain a hemoglobin level about normal.

What is Alpha Thalassemia?

Alpha thalassemia is defined as a genetic disorder of hemoglobin synthesis which occurs due to the reduction or absence of alpha chain synthesis results in reducing the production of hemoglobin.

Thalassemia Major vs. Thalassemia Minor vs. Alpha Thalassemia:

Now, there is a difference between major and minor thalassemia and alpha thalassemia. Let’s study it now!

A glimpse of these three diseases:

A patient of major and minor thalassemia disease has only one copy of the beta-thalassemia gene.

The person belonging to this disease is called heterozygous for beta-thalassemia.

Thousands of infants born every year.

Usually, this kind of thalassemia is found in children. Usually, the children born with thalassemia major has two gene of beta-thalassemia.

Thalassemia major is also called Cooley’s anemia.

It produces Hb A.

It is more significantly called illness.

The child is called homozygous.

Alpha thalassemia: Alpha thalassemia occurs when the body is unable to make the alpha-globin chain. Following are the life-threatening conditions of alpha thalassemia:

Hemoglobin H: If three genes are deleted the patient has hemoglobin H disease (HbH is functionally useless). There is moderate anemia and splenomegaly.

Hydrops fetalis: If all 4 genes are deleted there is no alpha chain synthesis and only Hb Barts is present that cannot carry oxygen. Infants are either stillborn at 28 to 40 weeks or die very shortly after birth. They are pale, edematous, and enormous liver and spleen – a condition called hydrops fetalis.

What are states for these three and how it gets developed?

These patients have mild anemia with a slight lowering in the hemoglobin.

The people with minor thalassemia have a normal blood iron level.

They have iron deficient for other reasons.

At the time of the birth, major thalassemia seems normal, because, at birth, hemoglobin is Hb F means it is fetal at the time.

Baby gets protected because he is not having beta chains.

It gets produced within a few months after months.

Baby fails to grow because of bouts of fever, diarrhea, and other problems.

Whereas In alpha thalassemia normally there are four alpha genes:

If one is deleted, there is no clinical effect

If two genes are deleted (alpha thalassemia minor or trait), there is microcytosis with or without mild anemia

If three genes are deleted the patient has hemoglobin H disease

If all four genes are deleted there is no alpha chain synthesis and the patient develops a condition called hydrops fetalis.

Signs and symptoms:

Thalassemia major symptoms:

Children affected by beta-thalassemia major present during the first year of life with severe anemia

Growth retardation

Intermittent infection

Fatigue

Bone marrow hyperplasia causing bossing of head and prominent malar eminence

Dark urine

Swollen abdomen

Splenomegaly

Hepatomegaly

Death from cardiac failure (between ages of 20 to 30 years)

Thalassemia minor symptoms:

Usually asymptomatic

Mild persistent anemia

Alpha thalassemia symptoms:

Fatigue

Weakness

Dyspnea

Jaundice

Growth retardation

Abdominal swelling

Dark urine

What about the treatments:

Thalassemia minor: Usually, no treatment is required for thalassemia minor.

Summing up, iron is not recommended by doctors.

Thalassemia major: In the case of major thalassemia, treatments are required as it is a significant illness.

The basic treatment of the sufferer is to go for regular blood transfusions.

Alpha thalassemia: Patients with alpha thalassemia requires only repeated blood transfusion therapy

Alpha thalassemia trait patients require no treatment

Patients with hemoglobin H disease should take folic acid and avoid oxidative drugs such as sulfonamides.

Transfusions are much safer in saving one’s life

How a person acquire it:

Thalassemia is acquired as an autosomal recessive pattern, which means both copies of the HBB gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene.

Sometimes, however, people with only one HBB gene mutation in each cell develop mild anemia.

These people are called people mainly suffering from thalassemia minor.

On the other hand, it is also inherited as an autosomal recessive pattern.

In starting, it doesn’t show the sign but it is identifiable at the very start of the diseases.

The patient will feel the lesser quantity of iron in his body.Doctors in this matter use drugs to demolish the disease.

Conclusion:

Concluding the whole discussion. We can say that one is vulnerable and the others are not but apart from all this they spend the fairly normal lives, children with this disease go to school, play with other children but when it comes to the major cases, it’s a risk and scary. In thalassemia as mentioned above, iron chanting drugs and approaches to the doctor can surely save your life.