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Thalassemia : Overview


Thalassemia may be a 
group of inherited blood disorders that prevent your body from producing the quantity of hemoglobin it needs. Hemoglobin is found within your red blood cells. It’s what carries oxygen from your lungs to the remainder of your body. Not having enough hemoglobin also results in anemia. This medical condition causes you to feel tired, weak, and in need of breath.

There are two main sorts of 


1)  Alpha thalassemia: Missing or mutated genes associated with the alpha globin protein.

2)  Beta thalassemia (also called Cooley anemia): Gene defects    that affect production of beta globin  protein.

Inheriting the gene from both parents is named 
Cooley's anemia . Inheriting it from one parent is named thalassemia minor. Most carriers (people who have the gene but don't have the disorder) are symptom free.

Symptoms of thalassemia

Thalassemia symptoms depend upon 
the sort of thalassemia you've got and therefore the severity of the anemia. Some people have little or maybe no symptoms. people have mild to severe symptoms. Symptoms of thalassemia may include one or more of the following:


Ø  Paleness.

Ø  Tiredness, low energy, or muscle weakness (also called fatigue).

Ø  Lightheadedness or shortness of breath.

Ø  Lack of appetite.

Ø  Dark urine.

Ø  Jaundice (yellowing of the skin and therefore the whites of the eyes).

Ø  In children, slow growth and delayed puberty.

Ø  Bone deformities within the face.

Ø  Abdominal swelling.

Alpha thalassemia are often 
harmful to pregnant women. It can cause a stillborn birth.

Children who are born with thalassemia may show signs of the disease directly 
, or symptoms may appear later. Most signs and symptoms usually show up within the primary 2 years of life. If your child has delayed growth, it’s important to seek out out if he or she may need thalassemia. Untreated thalassemia can cause coronary failure and infection.

Thalassemia can cause other health problems:


Ø     An enlarged spleen. Your spleen helps your body fight infections and filters out damaged blood cells. If you've got thalassemia, your spleen may need to work harder than normal, which may cause it to enlarge. If your spleen becomes overlarge , it's going to need to be removed.


Ø     Infections. People that have thalassemia are more likely to urge blood infections, especially if they need tons of blood transfusions. Some sorts of infection are often worse if you’ve had your spleen removed.


Ø     Bone problems. Thalassemia can cause bone deformities within the face and skull. People that have thalassemia can also have severe osteoporosis (brittle bones).


Ø     Too much iron in your blood. This will cause damage to the guts , liver, or system (glands within the body that make hormones, just like the thyroid and adrenal glands).

What causes thalassemia?

Thalassemia is an inherited point mutation 
. it's passed on from one or both parents.

The type of thalassemia you've got 
depends on which mutated genes you inherit from your parents, and the way many genes you inherit.

Alpha thalassemia - Involves 4 genes (you get 2 of those 
genes from your mother and a couple of those genes from your father). If you simply get 1 mutated gene, you'll have any signs or symptoms of thalassemia. However, you'll still expire the point mutation to your children (this is named being a “carrier”). If you get 2 mutated genes, you'll have mild symptoms. If you get 3, you’ll have moderate to severe symptoms. A baby who inherits all 4 mutated genes are going to be very sick, and doubtless won’t live long after birth.

Beta thalassemia - Involves 2 genes (you get 1 gene from your mother and 1 gene from your father). If you get just one 
mutated gene, you’ll have mild signs or symptoms of thalassemia. If you get 2 mutated genes, you’ll have moderate to severe symptoms that sometimes develop within the first 2 years of life.

Who is in danger 
for thalassemia?

You are in danger 
for thalassemia if you've got a case history of it. Thalassemia can affect both men and ladies . Certain ethnic groups are at greater risk:


Ø     Alpha thalassemia most frequently affects people that are of Southeast Asian, Indian, Chinese, or Filipino descent.

Ø     Beta thalassemia most frequently affects people that are of Mediterranean (Greek, Italian and Middle Eastern), Asian, or African descent.

How is thalassemia diagnosed?

If your doctor thinks you or your child may need 
thalassemia, he’ll do a physical exam and ask about your medical record . Thalassemia can only be diagnosed with blood tests. Doctors use several differing types of blood tests to seem for thalassemia. Some tests measure the amount and size of red blood cells, or the quantity of iron within the blood. Others check out the hemoglobin within the red blood cells. DNA testing helps doctors identify which genes are missing or damaged.



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