What is Thalassemia?
Many people cannot answer this question because they don’t know what it is. According to the Global Burden of Disease study, conducted in 2015, 280 million people live with Thalassemia worldwide.
Even with 280 million people with Thalassemia, what it is remains very unknown to people.
According to various sites, Thalassemia is a blood disorder but it is passed down through the family tree, making it a genetic blood disease.
Thalassemia goes by other names as well. Mediterranean Anemia or Cooley’s Anemia being two of them. It is a disease that has existed well over 7000 years and continues to affect people till today.
Since Thalassemia is a disorder of the blood, it means if you have Thalassemia your body produces abnormal form of hemoglobin.
What is Hemoglobin?
For many of us it has been awhile since we may have gone to high school and took a biology class.
Like me you might have asked yourself, “what is hemoglobin, again?”
According to the MayoClinic, Hemoglobin is the protein, in our red blood cells, that carries oxygen in our red blood cells to various organs, muscles and tissues. Carbon Dioxide is replaced by a new fresh supply of oxygen.
This happens anywhere between 12 or more times a minute. Seldom do we think about breathing. Our subconscious mind takes care of it for us.
Before I answer who has Thalassemia, let’s consider the fact that as of 2017, there are well over 7.5 billion people on earth and only a small portion of the population is affected.
It is important to know that Thalassemia occurs when there is a defect in our genes. The gene that is affected controls production of 1 of 2 proteins found in hemoglobin. Those genes are called, Alpha globin and Beta globin.
When the defect happens, the result is a large numbers of red blood cells are destroyed, which leads to anemia.
Who has Thalassemia?
Let’s take a realistic view of how populations have shifted over the last 7,000 years. If we look from the Mediterranean and head towards India all the way to Papa New Guinea can see there has been a major shift of people from these areas.
Regions Thalassemia Can Affect
The people from these areas carry with them the potential to carry in their DNA the traits for Thalassemia.
Thalassemia carriers are categorized in to, the Alpha and the Beta carrier. Alpha and Beta carrier are further broken down into two subcategories, Major and Minor.
- Alpha Thalassemia – Typically occurs in people of Southeast Asia, the Middle East, Chinese, and African descent.
- Beta Thalassemia – Usually occur in people with Mediterranean origin and to a lesser degree, people of Chinese decent, other Asian countries, and people of African-American decent.
- Thalassemia Minor – The reason people carry the Minor gene is because they receive a faulty gene from only one parent. This means only 1 gene has been effected. These people are considered carriers of Thalassemia. People in this group do no-show signs of anemia or have very slight form of anemia
- Thalassemia Major – The reason someone is considered Thalassemia Major is because they inherited 2 Minor genes, 1 from each parent. Children who are born with both genes usually develop symptoms of severe anemia within the first year of life. They lack the ability to produce normal adult hemoglobin. These children typically show symptoms of chronically fatigued, fail to thrive normally in society and do not grow up “normally”.
As you study the map above you can imagine some of the highest concentrations of Thalassemia is found in Greece, Turkey, parts of Italy (southern Italy and the lower Po valley), West Asia, North Africa and the South Asians Maldives.
With the spread of globalization, the disease can now be traced in Africa, the Americas, Nepal and India.
Thalassemia is associated with people of Mediterranean origin and those people with Palestinian descent.
How does Thalassemia Effect People?
Thalassemia can affect people in many ways. Your health, breathing, passing on traits to children, energy and even how you look can be affected.
Over generations, it can affect the blood line of carries. The carrier would possibly need to do a blood test to insure they are not producing children with another carrier as they may not want to pass those traits to children.
As mentioned above, if people who have the Minor gene have children with another carrier of the Minor gene, their offspring can be Thalassemia Major. If this happens the life of the child can be much harder than it needs to be.
I believe this can really cause us to look at love and relationships in a new light.
Now keep in mind, there are believes in different parts of the world where marriage between relatives is accepted. These relatives then have kids and the kids are accepted by the societies they live in.
When this happens, the result can be children who are born with genetic birth defects. These defects can cause problems including iron issues in the blood, bone deformities, and cardiovascular illness.
- Iron overload: People who have Thalassemia may have an abundance of iron in their bodies. This can result in damage to major organs of the body which include the heart, liver, and endocrine system.
- Infection/Illness: There is a higher risk of infection if the spleen has been removed for people who have Thalassemia.
- Bone deformities: Thalassemia has been known to make the bone marrow expand, which causes bones to widen. This may result in an abnormal bone structure, possibly in the skull.
What If you do have Thalassemia?
You can ask your doctor or health professional to diagnosis you with some simple testing. The exams usually look for; an enlarged spleen and by conducting a blood test.
After you have gone through additional testing and it is determined that you are Thalassemic, your doctor may offer you treatments to help with any symptoms.
For those of you who are Thalassemic Minor you might need help when it comes to finding out if you carry the gene or not. Since there may be no symptoms for most people this is something everyone should check. You may consider seeing a genetic counselor if you have a family history of the condition or if you are considering the idea of having children.
In May 2014, my wife and I went to Montreal to visit family and from there we were headed to Dominican Republic for the second half of our vacation.
A few days after we got back from Dominican Republic my older cousin asked to talk to me. I said sure. He says to me, “I’m Thalassemic.” Being one of the many who had not idea what being Thalassemic meant, I said, “Ok, so what does that mean?”
He explained it to me with an example.
If he and I went for a run and we ran the same pace for the same amount of time, it would take him longer to recover after we were done our run.
His red blood cells would take longer than mine, to carry oxygen to his muscles, tissue, cells and organs.
My natural reaction was to ask him a few open-ended questions, to find out more.
I asked him, “How do you know you are Thalassemic?”, “How long have you been Thalassemic?” “What’s the cure for this disorder?” and “What does that mean to your health now and later in life?”
His answer was, “I was born with Thalassemia. I have been tested by a doctor. There is no cure as I am Thalassemia Minor and as for my health, I am fine and should be fine till old age. But knowing what I know now will help me protect my kids when they get old enough to be married and have their own kids in the future.”
Could I Be a Carrier?
As the conversation continued I asked him about his experience at the doctor. How and why he was diagnosed with this blood disorder.
My mind started to race as I had more questions. I started to connect the dots about this new knowledge. My cousin and I share half of the same genetic makeup. It also crossed my mind, was it possible I could carry the gene for Thalassemia minor or major?
As we chatted, he said to me, “Do you know the doctor I went to was a specialist and he told me other interesting facts!”
He proceeded to tell me thalassemia is a genetic condition that is passed down the bloodline and was pass to him through his father, my dad’s brother. He said a blood test done on my grandmother, my uncles and dads mom, confirmed it.
My cousin explained, “When we were younger, do you remember when Beji (this is the name we called my grandmother out of respect) had a stroke?”
I said I did.
He said, “When they were performing all of the exams and tests they do on a stroke victim, they also do blood work. In that blood work, it had come back that she was Thalassemic Minor. The lack of oxygen going to her brain could have been a cause for the stroke she suffered.”
When my cousin went on and explained to me that the specialist said had been doing this for years and that he was one of the foremost knowledgeable people on this topic.
The doctor had asked my cousin, “Do you want me to tell you what region of the world your particular type of Thalassemia comes from?”
Finding Out the Family History
Now I need to add a small disclaimer here, ever since I could remember my cousin has always been the guy to tell jokes and make up stories. Stories so good, you would have to believe them.
Although I was listening to him I was also caution of what he was saying because I did not want to get caught up in one of his stories.
He explained to me, the doctor told him based on his blood work the Thalassemic gene my Dad, my Uncle, their 4 sisters and all their children, including myself, carry in our blood line an Italian heritage.
Now you must know this sounds completely outrages to me at this point in our conversation and I have pretty much dismissed everything my cousin has told me. It would be a good bedtime story, if I was still a young kid.
But as I thought about how my Beji, grandmother, looked and about her completion, I could not completely dismiss his comments. There is no way this was a fact and my cousin has trying to pull one over me.
Asking My Dad
A few days after I got back to Calgary I pulled my dad aside and told him the story. My thinking was my dad would tell me don’t listen to my cousin and that he was just telling me stories.
My dad looks at me in the eye and says, “Yes this is true.” And then looks down and continues to do what he was doing.
At the time, after 36 years of believing in the heritage I have grown up with I had to start looking at myself differently. To think somewhere in my grandmother’s history, her family either came from Italy and settled in India. They could have been a part of some ancient trade route or somewhere in the distant past someone pillaged my grandmother’s family.
Those genes were passed to my aunts, uncle and dad and on to me.
This story really makes me wonder, do we really know our family history? Do we know what information is hidden in your DNA and genes?
Today we can do a simple blood test and be diagnosis Thalassemia positive or negative.
For me to tell my story, I had to use the links below for reference.
What one thing did you take from this article? Are you from any of the religions or cultural backgrounds that are prone to having this disorder?
Please share this article and help others find out about this health problem that over 280 million people share.
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