What is Thalassemia?
Thalassemia is not a very known blood disorder but it is passed down through the family tree, making it a genetic blood disease. Thalassemia is also known as Mediterranean Anemia or Cooley’s Anemia. It is a disease that has existed over 7000 years. When you have Thalassemia it means your body makes an abnormal form of hemoglobin.
It’s been awhile since I went to high school and learned biology. You might be like me and ask, “what is hemoglobin, again?” Hemoglobin is the protein in your red blood cells that carries oxygen within your body to your organs, muscles and tissues. Hemoglobin is made of two proteins, Alpha globin and Beta globin.
Thalassemia occurs when there are defect in a gene that helps control production of 1 of these 2 proteins. This results in a large numbers of red blood cells being destroyed, which leads to anemia.
Where did Thalassemia Originate?
Over the last 7,000 years there have been major shifts in the population meaning Thalassemia can be found in different parts of the world. There are two types of Thalassemia carriers, the Alpha and the Beta. Alpha and Beta are further broken down into Major and Minor.
- Alpha Thalassemia – Usually occurs in people from Southeast Asia, the Middle East, China, and those of African descent.
- Beta Thalassemia – Usually occur in people with Mediterranean origin and to a lesser degree, people of Chinese, other Asian countries, and people of African American decent.
- Thalassemia Minor – The reason people have the Minor gene is because they receive a faulty gene from only one parent meaning only 1 gene has been effected. These people are carriers. These people do not have any signs of anemia or have very slight form of anemia.
- Thalassemia Major – The reason someone is considered 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 and do not grow normally.
Regions Thalassemia Can Effect
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, South Asians the Maldives.
Nowadays the disease can be found in Africa, the Americas, Nepal and India. Thalassemia is also associated with people of Mediterranean origin and those people with Palestinian descent.
How does Thalassemia Effect People
Thalassemia can affect people in many ways. Over time it can affect the blood line of carries and can cause those people to take cautions when they decide with whom they have children. If people who have the Minor gene have children with another carrier of the Minor gene, they can have offspring who can be Thalassemic Major.
There are believes in different parts of the world where the marriage between relatives is accepted and the kids they produce are accepted by the societies they live in. When this happens the results can be children who are born with genetic birth defects. These defects can cause problems in people including iron overload, bone deformities, and cardiovascular illness.
- Iron overload: People who have Thalassemia may have an overload of iron in their bodies. This can result in damage to major organs in 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 possible in the skull.
What If I have Thalassemia?
If your doctor thinks you are Talassemic Major he or she will conduct some physical exams. The exams can include; looking for an enlarged spleen and conducting a blood test. After your have gone through the tests and it is determined that you are Thalassemic your doctor may offer you treatments to help with any symptoms.
For those of us who are Thalassemic Minor we might need help when it comes to finding out if we carry the gene or not, since there can be no symptoms for most people. You may want to seek genetic counseling if you have a family history of the condition and are thinking of having children.
My Family Story With Thalassemia
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, of course said sure. He says to me, “I’m Thalassemic!” Not knowing what being Thalassemic meant I just said, “Ok, so what does that mean?”
What Does This Mean
He explained to me like this: 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 as his red blood cells would not carry enough oxygen as my red blood cells would carry. So my nature reaction was to ask him questions to find out more. “How long have you been Thalassemic?” “How do you know?” “What’s the cure?” and “So what does that mean to your health now and later in life?”
His answer, “I was born Thalassemic. I have been tested by a doctor. There is no cure as I am Thalassemic Minor. As for my health I am fine and should be fine till old age. But knowing now helps me protect my kids when they get married and have their own kids in the future.”
Could I Have It?
As the conversation continued I asked him about his experience at the doctor and how and why he was diagnosed with this disease. He proceeded to tell me that it was a genetic condition that was passed down the bloodline for our shared grandmother (both our Dad’s, Mom).
I started to think about our bloodline and quickly realized that we shared half of the same genetic makeup. It also crossed my mind, was it possible I could also carry the gene for Thalassimia? He then says to me do you know the doctor I went to was a specialist and he told me other interesting facts!
He said, “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, and that could have been a cause of the stroke she suffered.”
When my cousin went to the specialist the doctor said to him that he had been doing this for years and that he was one of the foremost knowledgeable people on this topic. He then asked my cousin, “Do you want me to tell you what region of the world your particular type of Thalassimia comes from?”
Finding Out The History
Now you have to know, ever since I could remember my cousin has always been the guy to tell jokes and make up stories, so good, you would have to believe them. So 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 says to me, the doctor told him based on his blood work and the particular Thalassemic gene my Dad, my Uncle, their 4 sisters in India, all the children the 6 of them have had including myself carry in our blood line Italian heritage. Now you have to know this sounds completely outrages to me at this point. I thought about how my Beji looked and completion. There is no way this was a true fact and my cousin had to be pulling 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 cousin told me, thinking my dad would tell me don’t listen to your cousin he is just telling you 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.
After 36 years of believing in the heritage I have grown up with, it was interesting to learn that somewhere in our family history my grandmother’s family either came from Italy and settled in India, could have been apart of some ancient trade route or somewhere in the distant past someone pillaged my grandmothers family and passed the gene on to my dad, uncle, all my aunts, all my cousin’s on my dad’s side, my sister and myself.
Do you really know your family history? Do you know what information is hidden in your blood line?
For me to tell my story, I had to use the links below for reference.
Now its your turn to make a difference. Do you know someone who has Thalassemia? Share this story with your favourite social media platform. It’s easy to do and a proven fact your inner circle wants to know what you know.
Leave a comment below and let us know where your family history began.
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