Hello dear friends, first of all a very BIG THANKS and WARM WELCOME to you all. After a very long time i am writing to you all and i could not express you that how much happy and joyful i am right now. OK than, before posting, tell me friends how are you all? Hope that more than fine, more than well and very much joyful & excited more than me, which i always wish for you.
Well, today what i am writing to you, is about one of my friend's condition, who is suffering from this disease. And after seeing my friend's condition and knowing about this disease. I literally thought that we all know about this disease more or less but we do not try to find a cure or prevent or to acknowledge other’s about this disease which is becoming very much severe. I think that, I will do what I always do for people but there are some more friends of mine in my blog who are with a great heart about helping people and who could also help me about informing other’s about this disease as I am. Today my topic is thalassemia and it’s basic information.
What is thalassemia?
Thalassemia is a genetic blood disorder passed down through families (inherited). It is also known as Mediterranean anemia, or Cooley’s anemia. The word ‘Thalassemia’ came from Greek word ‘Thalassa’, which means ‘sea’. This disease originated in the Mediterranean area’s most.
In thalassemia, the disorder is caused by affecting the body's ability to produce hemoglobin and red blood cells. Our red blood cells carry haemoglobin. Haemoglobin, a protein is needed to carry oxygen to all parts of the body, and carbon dioxide to the lungs to be exhaled. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal, which results in mild or severe anemia and fatigue. Thalassemias are often inherited in the form of autosomal recessive blood disorders.
Who’s at risk?
The defective genes that cause thalassemia are relatively common, especially in people of South Asian, African and Mediterranean descent. Those who have these defective genes but do not experience symptoms are called carriers (this condition is also called thalassemia minor or “Mediterranean anemia”). If both parents carry a thalassemia gene, their patients are at a higher risk of having some form of thalassemia.
Causes and types of Thalassemia:
Everyone has four alpha genes and two beta genes that control Haemoglobin production. Alpha thalassemia occurs when one or more of these alpha genes are missing or damaged. Beta thalassemia occurs when one or both beta genes aren’t working properly.
There are three major types of thalassemia that are classified based on the severity of symptoms: minor, intermediate and major.
- Patients with thalassemia minor or trait (and those that are “silent carriers”) do not experience symptoms or require treatment.
- Patients with thalassemia intermediate need some follow-up care and may require blood transfusions under certain circumstances.
- Patients with thalassemia major need ongoing medical care, including blood transfusions to alleviate severe anemia and chelation therapy to remove excess iron from the blood.
Thalassemia minor and carriers
- one alpha gene is missing or damaged
- no symptoms
- no treatment needed
Thalassemia minor (or thalassemia trait):
- two alpha genes or one beta gene missing or damaged
- no symptoms or mild anemia under some circumstances
- no treatment needed
- can have child but 50% chance to be affected of that child
Beta thalassemia intermediate:
- one or both beta genes are not working properly
- mild to severe anemia
- can be diagnosed early in childhood or later in life
- may need blood transfusions during pregnancy or when very sick
Alpha thalassemia major:
- four alpha genes are missing
- most serious and most rare form of thalassemia
- untreated, leads to miscarriage or death of the baby shortly after birth
- may be treated with blood transfusions in the womb if discovered early enough in pregnancy
- babies who survive require life-long blood transfusions or stem cell transplant and extensive medical care
Beta thalassemia major (also called Cooley’s anemia, after the discoverer):
- both beta genes are not working properly
- severe anemia
- monthly blood transfusions needed
- chelation therapy is also needed to remove excess iron that builds up in the body due to frequent blood transfusions
- symptoms begin during the first year of life
Other types of thalassemia
- Haemoglobin E beta-thalassemia: This form of thalassemia is more common in patients of South-East Asian descent. It results from two separate genetic defects:
- a defective type of Haemoglobin known as Haemoglobin E
- a defective gene that causes beta thalassemia
- Haemoglobin H disease alpha-thalassemia: This form of thalassemia is most common in Southern China and South-East Asia. In Haemoglobin H disease:
- three alpha genes are missing
- moderate to severe anemia may occur
- frequent blood transfusions may be needed
- genetic counseling and screening may be needed in adulthood, as the risk of having patients with alpha thalassemia major is increased.
- Haemoglobin C thalassemia
o common in Mediterranean and African populations
o Haemoglobin C/βo thalassemia causes a moderately severe hemolytic anemia with splenomegaly
o Haemoglobin C/β+ thalassemia produces a milder disease.
- Haemoglobin D thalassemia
o common in north west parts of India and Pakistan (Punjab region).
So friends, it is time to say good bye for today. While saying goodbye, I hope you like my post’s one part and it’s second part will be more informative. Till then all of you stay healthy, be passionate and keep blogging.