Premarital tests important to avoid transmitting thalassemia to child
By Mariam Al-Zanki KUWAIT, Dec 10 (KUNA) — Head of the Kuwaiti Thalassemia Society Dr. Mona Hamad Bourahma stressed the importance of conducting medical tests before marriage to make sure both partners are free from any genetic diseases such as Thalassemia.
Bourahma told Kuwait News Agency (KUNA) that thalassemia is a name of a group of genetic blood disorders. Hemoglobin consists of two different proteins, alpha and beta, and people whose hemoglobin does not produce enough of either of these two proteins have anemia which begins in early childhood and last throughout their life.
Thalassemia is commonly found in Africa, the Middle East, India, southeast Asia, southern china and the Mediterranean region, she added.
She noted that the word thalassemia is of Greek origin and made up of two parts the first “thalass” meaning sea and the second “emia” meaning blood.
Bourahma said if one of the parents is carrying the thalassemia gene, there is a slight possibility of giving birth to children diagnosed with thalassemia but if both parents are carrying the gene than there is a 25 percent chance of giving birth to a child with this disease.
She advised that in case one of the children is diagnosed with thalassemia, the other family members must carry out tests to try to prevent having children with thalassemia in the future.
Symptoms of thalassemia appear in the early years of chilhood, especially by the end of the first year. Infants become pale and listless, have poor appetite, grow slowly, and often develop jaundice (yellowing of the skin). The spleen, liver, and heart may also be damaged due to the continuous blood transfusion that might lead to iron overload, she noted.
There are four kinds of thalassemia, Thalassemia Major, Thalassemia Intermedia, Thalassemia Trait and Sicklecell Thalassemia.
Thalassemia Major is the most severe form in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care, she continued to say.
Thalassemia Intermedia is when the lack of beta protein in the hemoglobin is large enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. Patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.
Thalassemia Trait is when the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia.
Sicklecell Thalassemia is caused by a combination of beta thalassemia and hemoglobin S, the abnormal hemoglobin found in people with sickle cell disease.
The most common treatment for all major forms of thalassemia is red blood cell transfusions. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient’s body needs.
She explained that to help remove excess iron, patients undergo the difficult and painful infusion of a drug, Desferal. A needle is attached to a small battery-operated infusion pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours. Desferal binds iron in a process called “chelation.” Chelated iron is later eliminated, reducing the amount of stored iron.
She noted that a new treatment for iron overload in the form of pills is available to be taken once a day instead of the Desferal which should be available in the Kuwaiti markets soon.
Another type of treatment for the disease is to replace the patient’s marrow with a healthy one from any of the patient’s siblings or parents who have identical tissues. This operation is considered one of the most successful ways of treatment and hopefully will soon be conducted in Kuwait, she concluded.
The Kuwaiti Thalassemia Society established in 1993 is working under the umbrella of the Kuwait Medical Association.(end) mhz.