Premarital screening advised for diagnosis of thalassemia

Premarital screening could save couples from the agony of giving birth to children with thalassemia resulting in chronic haemolytic anaemia, which could lead to untimely death if left untreated.Thalassemia is an inherited autosomal recessive blood disease that can cause the formation of abnormal haemoglobin molecules, thus causing anaemia, the characteristic presenting symptom of the thalassemias.“Chronic haemolytic anaemia is a form of anaemia due to haemolysis and it is a hereditary disease that could be very severe in children from as early as six months of life thus requiring regular blood transfusion as lack of this could lead to death. However, this is a very preventable disease, especially with the screening programme being recommended for couples before marriage during which the gene responsible for the disease could be detected,” HMC’s senior consultant and paediatric endocrinologist Dr Ashraf Soliman explained.There are about 500 people suffering from thalasemia in Qatar, of which some 300 have their disease at the intermedial level and around 150 having thalasemia major, he mentioned.“The anaemia requires repeated blood transfusion to correct it and this process can improve the patient’s condition but also lead to increase in iron in the body, which is another health problem as excess iron is very toxic to blood. So, the patient will need iron chelation, that is, removal of the iron by certain drugs,” he said, adding: “We can now remove the iron through ironic chelation therapy in oral form. In the past it used to be through injectable form.”Dr Soliman, who is also a professor of paediatrics and endocrinology at the Weill Cornell Medical College in Qatar, mentioned that some of the complications of thalasemia include iron toxicity resulting in heart failure or death, malfunctioning of the endocrine glands causing short stature and lack of or delayed puberty and low thyroid function.“Results of some past surveys showed that 60% of thalassemia patients have short stature while around 50% have delayed puberty or some females do not menstruate at all and some do not have their breasts developing,” he highlighted.However, he maintained that following-up on growth of the patients was of utmost importance saying: “We check the endocrine functions of the patients every three-four months to detect any abnormalities and treat it early so that the patient can grow normally and at the same time, we can prevent resulting bone diseases such as osteoporosis or active bone marrow, as well as deficiency of growth hormone and puberty hormone.”Dr Soliman, who was speaking to the Gulf Times about the upcoming “First Qatar Thalassemia Forum on Growth and Endocrine Complications and the First Meeting of the International Group for Studying Endocrine Complications of Thalassemia (I-CET) under the umbrella of Thalassemia International Federation on October 2-3, said the aim was to review endocrine complications and growth problems in both children and adults as regards thalassemia.“We have a group of scientists and professionals from Italy, Greece, Cyprus, Egypt, Iran as well as Qatar coming together at the forum to discuss issues in thalassemia apart from putting together recommendations for early detection and management of the disease in order to reduce the level of complications in patients,” he said.According to him, the meet, which will award some 11 continuous medical education (CME) points to participants, will attract, as speakers, about 10 professionals and experts in the field from different parts including Qatar.