I discovered a rare case of the syndrome 49, XXXXY - which aneuploidy for chromosomes X , which leads to multiple abnormalities and delayed psychomotor development, in the Emirati child at birth. The study was conducted to collect data about genetic diseases in the United Arab Emirates.
The aim of the Arab Centre for Genetic studies launched by the Health Minister of the UAE last week to identify the genes that cause the disease among the Arab population and development in the Arab world spread of genetic diseases database project.
Although the nuclear patterns 47, XXX and 47, XXY and 47, XYY and 45, X familiar and frequent and occur in one out of every 400 births, at least, however, the number of patients who suffer from the presence of several additional sex chromosomes remain a bit.
This was a case of a patient said at the age of three and a half years was born to parents of citizens of the state share a kinship link referred to the genetics clinic to assess the attributes or features of deformation seemed to him. For this patient three brothers and two sisters are older than all natural born, and his mother had aborted automatically twice in the first three months.
The period before the birth of this patient free of events, was born by Caesarean section after it completed the drive because of the emergence of function signs that the fetus did not seem okay. The baby's weight at birth was 1.5 kg and feel difficulty in feeding during the subsequent period of his birth because of cleft palate in addition to repeated lower respiratory infections and behavioral disorders.
These results were consistent with the clinical diagnosis of the syndrome 49, XXXXY confirmed by cytogenetic studies. It is worth noting that the results of the analysis of chromosomal parents were normal.
Among the genetic diseases that have been collecting its own in the United Arab Emirates data - which are currently available in the Centre for Arab Genomic Studies database LTD- following: syndrome and Edwards syndrome and Klinefelter syndrome Pato and chromosome ring and beta-thalassemia syndrome and Turner syndrome and six Down syndrome.
The number of beta-thalassemia cases registered in the United Arab Emirates between locals and expatriates 167 with registration to the presence of 31 gene mutation. Thalassemia is a hereditary disease is a debilitating lifelong haunted patient and lead to the body's inability to produce sufficient quantities of hemoglobin inside the red blood cells, and the result is severe anemia. Children who suffer from this disease, which affects blood cells to blood transfusions carried them throughout their lives every month in addition to the continuous treatment to get rid of iron overload caused by the excessive number of blood transfusions needed.
Recent studies have shown that eight to ten percent of UAE nationals carrying bugs in the beta-globin gene on chromosome 11 of their DNA. If those who carry this gene from other married carrying the same gene, there is a very high probability that have children suffering from thalassemia major, a type of severe anemia rare requires blood transfusions performed them every month throughout their lives in addition to the continuous treatment to get rid of iron overload due to the excessive number of blood transfusions.
Dr. Mahmoud student Chairman Emirates Thalassemia Society and director of the Executive Committee of the Arab Center for genetic studies pointed to the urgent need to spread awareness about the disease among the general population and encourage people to conduct blood tests before marriage as a means to identify the holders of the defect in the gene beta-globin.