THALASSEMIA: Its Causes Symptoms Also Their Types Treatment Management

 What Is Thalassemia? 

Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn't make enough of a protein called hemoglobin, an important part of red blood cells.

Contents 

1.what is thalassemia?

2. Types 

3.causes and symptoms 

4. Test and diagnosis 

5.Treatment & management 

6. Conclusion.

 Thalassemia is a inherited blood disorder that affect human body to produce normal red blood cells and hemoglobin. Hemoglobin are protein that are present in red blood cell that help to transport oxygen throughout the body. But in case of thalassemia patients the hemoglobin are not properly formed that's why oxygen does not fully nourish to whole body. And deficiency of red blood cell in body is called anemia. Thalassemia patients can address with severe and mild anemia and its symptoms are, Feeling cold, dizziness, fatigue and pale skin.

Types of thalassemia

1.Alpha thalassemia 

2.Beta thalassemia

 *Alpha thalassemia* 

Offsprings can inherited four genes from parents two from parental and two from maternal. But if one of gene is defective its cause alpha thalassemia. Defective genes must be one or more these are given as,

•one defective or missing alpha gene

In this case you don't experience the symptoms it's also called alpha thalassemia minima

•Two defective or missing alpha genes

This condition must be mild and showing symptoms it's another name is alpha thalassemia minor

•Three defective or missing alpha genes

It is also called Hemoglobin disease and its effects is moderate to severe 

•Four defective or alpha missing genes

 In this case patient death can be occurred but if newborn's are survive they need lifelong blood transfusion. It's another name is hydrops fetalis with Hemoglobin Bart's.

*Beta thalassemia* 

You can inherited two beta chain hemoglobin protein from each of parent and its depends on how many defective genes are transfer in offsprings. 

•One defective or missing beta gene

In this condition you experience mild symptoms of disease and its also called beta thalassemia minor

•Two defective or beta missing genes

In case of severe symptoms mutation can be occurred in two genes its called Cooley's anemia or thalassemia major. 

*Causes and Symptoms*

On the bases of their types different patients can experience different symptoms

1. Asymptomatic

If you have one missing alpha or beta genes then you can experience asymptomatic condition for example fatigue. 

2. Mild to moderate symptoms

In moderate disease condition it's cause following symptoms,

• Delayed puberty

•An Enlarged spleen

•Abnormal growth

•Bones abnormalities such as osteoporosis 

3. Severe symptoms

In this condition 3 alpha genes are missing cause Hemoglobin H disease and beta missing genes cause Cooley's anemia. 

Severe anemia associated with following symptoms,

•Jaundice

•urine that's dark colored 

• Irregular bone structure in your face 

•Poor appetite. 

*Test and Diagnosis* 

Moderate and severe thalassemia symptoms can be appear in two year's of your child life. 

Doctor can suggest different diagnosis test.

1.CBC

Complete blood count that refer to measurements of hemoglobin and red blood cells. Thalassemia patients have fewer red blood cells and hemoglobin than normal one. 

2. Reticulocyte count

Measure the young red blood cells and also indicate that your bone marrow is producing enough red blood cells or not.

3. Hemoglobin electrophoresis

It is used to diagnose beta thalassemia.

4. Genetic test

It can test or diagnosis alpha thalassemia. 

*Treatment and Management*

Authoritative treatment for thalassemia major are blood transfusion and iron chelation.

1. Blood transfusion

In blood transfusion process the thalassemia patients blood is restore with normal red blood cells or hemoglobin. You can need blood transfusion after every four month in severe and moderate thalassemia conditions. 

2. Iron chelation

In this technique the excessive iron is remove from blood by using different chelators because too much iron in blood can damage other body organs.

3. Folic acid supplements

To make normal red blood cells in your body.

4. Bone marrow and stem cell transplant

Compatible related donor is only treatment to cure thalassemia.

*Conclusion* 

In this era thalassemia disease is transfer genetically from parents to offspring and its leads to severe death and different abnormalities in your body structures its due to deficiency of red blood cells and hemoglobin that help oxygen to transport throughout the body, if blood is not properly transmitted then whole body functions are disturbed. Thalassemia can be cure by using different modern techniques such as blood transfusion, iron chelation and folic acid supplements etc.

Keywords

THALASSEMIA Management's

Chelators

CBC.

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