Would-be couples have been urged to take pre-marital test seriously as failure may cost them dear.
Speaking to Gulf Times yesterday about three inherited blood diseases – thalassemia, anaemia and sickle cell – Hamad Medical Corporation’s Hematology/Oncology unit head Dr Naima Ali al-Mulla emphasised the importance of genetic tests ahead of marriage.
“Due to lack of awareness and lack of adequate education among the public, especially in this region, many couples have gone into marriages that lead to birth of children having one or two of these serious diseases,” she said.
Thalassemia is a group of inherited diseases of the blood that affect a person’s ability to produce haemoglobin, resulting in anaemia – having low red blood cells while sickle cell disease is another inherited blood disorder that affects red blood cells. 
“These diseases are a serious burden on the family’s finances and time as the affected children require frequent visits to the hospital for monitoring and assessment, especially for thalassemia children who need blood transfusion every two to three weeks,” said Dr al-Mulla.
She said for sickle cell patients who do not need blood transfusion, parents need to bring them to the hospital for regular vaccination to prevent them from infections.
Similarly for anaemic children, parents have to spend a fortune on iron chelators to rid the body of excess iron, preventing or delaying problems related to iron overload.
“If aspiring couples could strive to know their genetic make-up before marriage, it would go a long way in preventing them from having babies with these deadly diseases as well as save them the stress of taking care of the children,” she advised.
She said there are minor, intermedia and major thalassemia that are inherited.  “The disease is passed to children by parents who carry the mutated thalassemia gene. Most carriers lead completely normal, healthy lives,” explained Dr al-Mulla.
“A child of two carriers has a 25% chance of receiving two trait genes and developing the disease, and a 50% chance of being a thalassemia trait carrier,” she said.
Dr al-Mulla said the more severe form of the disease is thalassemia major, also called Cooley’s Anemia, which is a serious disease that requires regular blood transfusions and extensive medical care.
She explained that those with thalassemia major usually show symptoms within the first two years of life. 
“They become pale and listless and have poor appetites. They grow slowly and often develop jaundice. Without treatment, the spleen, liver and heart soon become greatly enlarged. Bones become thin and brittle,” she said adding that heart failure and infections are the leading causes of death among children with untreated thalassemia major, she explained.
“The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Frequent transfusions keep their haemoglobin levels near normal and prevent many of the complications of the disease,” she noted. 
However, the doctor pointed out that repeated blood transfusions lead to iron overload - a build-up of iron in the body - that can damage the heart, liver and other organs. 
“Drugs known as iron chelators can help rid the body of excess iron, preventing or delaying problems related to iron overload,” she said.
Though thalassemia is said to have no remedy, the good news according to Dr al-Mulla is the disease has been cured using bone marrow transplants, however, this treatment is possible only for a small minority of patients who have a suitable bone marrow donor, especially from their siblings. 
But she said there is up to 20% mortality due to transplant if the bone marrow does not fully match.
To increase awareness about the diseases among the public, Dr al-Mulla said her department will organise an awareness and educational event next week at the Hamad General Hosiptal’s out-patients department and the Al Sadd Children’s Emergency.
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