Thalassemia- Tied For Life (Part 2)

Hello friends, hope you all are fine and joyful. At start, thank you very much to all of you for appreciating and commenting in my post and also for sharing your thoughts with me. After seeing you excitement and respond, today I am so much happy right now writing the second and the last part of my last topic’s post. As I told you in my last post, today I am going to finish this topic with more informative things. So, without extending and taking more time with the beginning part, here is the final part of the last topic.

 

Symptoms of thalassemia:

Symptoms of thalassemia depend on the number of genes affected and can range from no symptoms at all to severe anemia.

The primary symptoms of thalassemia are a result of anemia, a decreased number of healthy red blood cells. The following are the most common symptoms of anemia. However, each people may experience symptoms differently. The symptoms may include, but are not limited to, the following:

• pale skin, lips, hands or under the eyelids
• increased heart rate (tachycardia)
• breathlessness, or difficulty catching a breath (dyspnea)
• lack of energy, or tiring easily (fatigue)
• dizziness or vertigo, especially upon standing
• headache
• irritability
• irregular menstruation cycles
• absent or delayed menstruation (amenorrhea)
• jaundice, or yellowing of skin, eyes, and mouth
• enlarged spleen or liver (splenomegaly, hepatomegaly)
• slow or delayed growth and development

Patients who carry a single thalassemia gene are said to have “thalassemia trait.” These patients are generally healthy and do not require any treatment.

Thalassemia intermediate causes less severe symptoms than thalassemia major. This can make it difficult to diagnose because it may resemble other forms of anemia.

Thalassemia major causes the most severe anemia and requires ongoing treatment and regular blood transfusions.

Complications:

• Iron overload: People with thalassemia can get an overload of iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to the heart, liver and endocrine system, which includes glands that produce hormones that regulate processes throughout the body. The damage is characterized by excessive deposits of iron. Without adequate iron chelation therapy, almost all patients with beta-thalassemia will accumulate potentially fatal iron levels.
• Infection: People with thalassemia have an increased risk of infection. This is especially true if the spleen has been removed.
• Bone deformities: Thalassemia can make the bone marrow expand, which causes bones to widen. This can result in abnormal bone structure, especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the risk of broken bones.  
• Enlarge spleen: The spleen aids in fighting infection and filters unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells and the task of removing these cells causes the spleen to enlarge. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. Severe enlargement of the spleen may necessitate its removal.
• Slowed growth rates: Anemia can cause a child's growth to slow. Puberty also may be delayed in children with thalassemia.
• Heart problems: such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.

How serious is it?

Thalassemia major requires ongoing treatment and blood transfusions throughout their lives. In addition, they need ongoing chelation therapy to remove excess iron in the blood that builds up from these transfusions. Milder forms of thalassemia, including thalassemia intermediate and thalassemia minor, require less aggressive treatment or no treatment at all.

                      

Treatment:

Regular blood transfusions allow patients with thalassemia to grow normally and be active. Unfortunately, transfusions result in deadly accumulation of iron in the heart and liver. If the excess iron is not removed then the patients may suffer from a premature death due to iron overload.

Nowadays, drugs designed to remove excess iron (iron chelators) have significantly changed the prognosis of thalassemia. Patients can grow and develop normally, with relatively normal heart and liver functions. Patients are living longer and having families of their own. Medical advances continue and promise to improve the life expectancy and quality of life further for those living with thalassemia.

Current treatments allow thalassemia patients to live relatively normal life, however, a cure remains to be found. And as I always believe and always will that there is still presents of A HOPE which keeps us alive and make us to believe that we can do anything. Like this-

Some Chinese doctors have discovered a new mutant gene for alpha-thalassemia, first of its kind, an advance that enriches the gene database to assist researches into cures for the genetic disease.

  The mutant gene was identified by the end of 2012 before it was added to the Gene Bank database in the US-based National Center for Biotechnology Information (NCBI) and made public on October 1, 2013.

There is no effective cure for alpha-thalassemia, and the discovery of the new mutation will help prevention and research into the disease while preparing theoretical basis for future gene therapy.

How can we prevent Thalassemia?

Please share the information with others. Show it to your family, friends, neighbors, co-workers or anyone who has origins from areas where thalassemia is common. Be sure to ask your doctor to test you for thalassemia minor. Increased awareness is the key, please do your part by spreading the words.

So friend, hope you like the final part of my post. As the way you share your thoughts and comments last time, hope you shall do that all the time. Keep sharing your thoughts, topics you want to understand perfectly, questions or anything about pharmacy and medical science. Till then stay healthy, be passionate, of course do not forget to keep blogging and share our blog to your friends.

            
  

Thalassemia – Tied For Life(Part 1)

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

Silent carrier:

• 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

Thalassemia intermediate

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

Thalassemia major

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/β^o 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.