WHAT IS THALASSEMIA?

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WHAT IS THALASSEMIA?

Mediterranean anemia, Mediterranean anemia or Thalassemia as it is called in medicine; It is a kind of ”anemia” disease observed in races in Mediterranean countries, and is inherited by the “Beta Thalassemia” gene from the parents to the child to be born. The factor that causes anemia (anemia) to occur is a disorder in the structure of the “hemoglobin” molecule, which is located in the structure of red blood cells in the blood. Thalassemia Minor (Mediterranean anemia carrier) Thalassemia minor is followed by much milder than major.

The only finding in individuals is only anemia. The only complaints of people are malaise. Moreover, some patients may never know about their diseases until the mandatory blood tests performed during marriage procedures. In the examination performed in these patients, the serum iron level was normal or increased. Iron has decreased in Iron-deficient anemia, which is the most common type of anemia and is most confused with this disease. The diagnosis is made by ”Hemoglobin Electrophoresis”.

HbA2, one of the most important examination criteria that works to understand this disease (a small proportion of the hemoglobin molecule that provides oxygen transport in the blood), increased to 7% in this disease, while it was 3.4% in normal people; HbF increased at a small level (2-6%). T. The main importance of Minor occurs when this disease occurs in both individuals of a married couple; 25% of the child has T. There is a possibility that it is major, that is, from a severe and fatal form of the disease. If only one of the parents is a carrier of Mediterranean Anemia (Thalassemia Minor), the probability that their child will be born will be a carrier is 50% .There is no possibility of thalassemia major.

Thalassemia Major (Cooley’s anemia) [edit] Thalassemia Major is a severe form of the disease, and another name is Cooley’s anemia. Unlike the hemoglobin molecule, which consists of two alpha and two beta subunits in healthy people, because beta units cannot form properly in a patient with Cooley’s anemia, alpha subunits that form smoothly collapse inside the cell without beta subunits, and about 90% of red blood cells die in the marrow before they mature. This is called ineffective blood production (ineffective hematopoiesis). Often, heart failure develops as a result of severe anemia, which suddenly begins when the baby is just 6 months old. In order for this not to happen, frequent, frequent blood transfusions should be performed regularly. If a blood transfusion is not performed, the patient will die in a few years. If the blood transfusion is performed insufficiently, marrow tissue also begins to develop in organs where blood production does not normally occur to meet the blood deficiency (liver, spleen, flat bones (especially skull bones)), causing fractures of these bones, which can also lead to significant changes in the shape of the child’s face.

Despite all these efforts in blood production, the disorder in the structure of the hemoglobin of the red blood cells produced makes this production ineffective. The change in the shape of the face is as follows: the root of the nose is depressed, the forehead and cheekbones are dislocated. The upper teeth are thrown forward. The head takes the form of four corners. The spleen and liver grow. The height remains short. The child cannot enter the age of puberty. Heart problems caused by excess iron accumulated in the body by blood transfusions (myocarditis, heart failure, etc.) is often the cause of death at an advanced age. In the examination of hemoglobin electrophoresis; the presence of HBF in the blood, which is not found in normal adult people, but is observed in 50-90% of cases of this disease and is a type of hemoglobin, is diagnostic.

If both parents are carriers of Mediterranean anemia (Thalassemia Minor), the children who will be born will have a 25% probability of having Thalassemia Major and a 50% probability of being carriers. However, there is a 25% probability that the child will be normal. Treatment [edit] In addition to blood transfusions, “Desferoxamine” and “Vitamin C” are given in the treatment, which allows the excretion of excess iron accumulated in the body due to the transplanted blood. The overgrown spleen is removed by surgery. Pneumococcal vaccination is performed before spleen surgery, and then depot penicillin protection therapy is recommended. Especially at an early age (before blood transfusions have been performed much yet), these patients can achieve 70-80% complete health with bone marrow transplantation.

Due to the fact that our country is also a Mediterranean country, we have a risk of carrying this disease as a Turkish society. About 2.1% of the entire population of Turkey is a carrier. This rate can be up to 12% in regions such as Antalya, Antakya, Mersin. For this purpose, Hemoglobin (within the Hemogram) and Hemoglobin Electrophoresis tests are also included in the mandatory tests performed before marriage to each couple.

Dear friends, since that day, I have been meeting with families whose child has leukemia and other blood diseases! The “pediatric hematology department” that I can’t pass without visiting in hospitals! Maybe then the disaster had passed us by at a tangent, but is there a guarantee of tomorrow? For this reason, I believe that we should be more sensitive as a society!

We should support the associations established by helping these patients with treatment and the continuation of their social lives without knocking on our door of pain! Believe me, you can catch the hope in their hearts from the tired expression in their eyes, these innocent children of ours. If we can increase the number of people we make happy around us in order to be happy by sharing their troubles, with our sincerity, with our heart, with our unrequited love, then we can say that we have reached the insatiable taste of true happiness! I think that suffering matures people’s souls.

That’s why I believe that every event I experience is the lesson I was given to successfully pass the life exam. That was one of the lessons I learned when he introduced me to the associations established to support our children struggling with such diseases, and the strong, struggling little hearts I know here, and their hopeful mountain-hearted families…..

Sincerely, stay healthy and happy….

1. Bibliography: Mediterranean anemia – Wikipedia

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President of Organ Transplant Center at MedicalPark Hospital Antalya

Turkey's world-renowned organ transplant specialist. Dr. Demirbaş has 104 international publications and 102 national publications.

Physician's Resume:

Born on August 7, 1963 in Çorum, Prof. Dr. Alper Demirbaş has been continuing his work as the President of MedicalPark Antalya Hospital Organ Transplantation Center since 2008.

Prof. who performed the first tissue incompatible kidney transplant in Turkey, the first blood type incompatible kidney transplant, the first kidney-pancreas transplant program and the first cadaveric donor and live donor liver transplant in Antalya. Dr. As of August 2016, Alper Demirbaş has performed 4900 kidney transplants, 500 liver transplants and 95 pancreas transplants.

In addition to being the chairman of 6 national congresses, he has also been an invited speaker at 12 international and 65 national scientific congresses. Dr. Alper Demirbaş was married and the father of 1 girl and 1 boy.

Awards:

Eczacibasi Medical Award of 2002, Akdeniz University Service Award of 2005, Izder Medical Man of the Year Award of 2006, BÖHAK Medical Man of the Year Award of 2007, Sabah Mediterranean Newspaper Scientist of the Year Award of 2007, ANTIKAD Scientist of the Year Award of 2009, Social Ethics Association Award of 2010, Işık University Medical Man of the Year Award of 2015, VTV Antalya's Brand Value Award of 2015.

Certificates:

Doctor of Medicine Degree Hacettepe University Faculty of Medicine Ankara, General Surgeon Ministry of Health Turkey EKFMG (0-477-343-8), University of Miami School of Medicine Member of Multiple Organ Transplant, ASTS Multiorgan Transplant Scholarship. Lecturer at Kyoto University. Lecturer at University of Essen, Research assistant at the University of Cambridge .

Professional Members:

American Society of Transplant Surgeons, American Transplantation Society Nominated, Middle East and Southern Africa Council Transplantation Society 2007, International Liver Transplantation Association, Turkish Transplantation Association, Turkish Society of Surgery, Turkish Hepatobiliary Surgery Association.

Disclaimer:

Our website contents consist of articles approved by our Web and Medical Editorial Board with the contributions of our physicians. Our contents are prepared only for informational purposes for public benefit. Be sure to consult your doctor for diagnosis and treatment.
Medically Reviewed by Professor Doctor Alper Demirbaş
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