Patients With Down Syndrome ( Ds ) Essay

Patients With Down Syndrome ( Ds ) Essay

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Patients with Down syndrome (DS) are at a high risk of suffering from Acute megakaryoblastic leukaemia (AMKL) a type of leukaemia. DS, a genetic condition causing physical and mental disabilities due to extra trisomy 21. AMKL, a form of Acute myeloid leukaemia (AML) where excessive amounts of leucocytes affect the production of blood cells. Approximately one in every 1,000 babies are diagnosed with DS at birth and almost 10% of DS babies develop Transient Myeloproliferative Disease (TMD) the proliferation of megakaryoblasts. By the age of 4, around 20% of DS-TMD cases with TMD develops AMKL (DS-AMKL). DS-TMD and DS-AMKL cases indicate that trisomy 21 and GATA1 gene promote the malignancy of haematopoietic cells.


DS is a genetic disorder where the patient is born with an extra copy of chromosome trisomy 21. The extra chromosome alters the development of the foetus causing physical and mental disabilities. Our body has 23 pairs of chromosomes (autosomes) and two sex chromosomes (allosomes) i.e. 46 chromosomes in a cell and 48 including allosomes. The 23 pairs of chromosomes carry genetic information controlling inherited characteristics (e.g. baby’s hair colour, ear shape) with half of each pair from our mother and father. In the case of DS patients, a nondisjunction error occurs with the combination of chromosome 21 where it replicates three times instead of two producing an extra copy of chromosome 21. This causes both chromosomes to go from one pair, into the same cell, leaving the other cell with no chromosome. The severity of the DS symptoms varies from one patient to another, common symptoms include, short neck, small head and eyes slanting upwards. Additionally, their tongue extends out and hands tend to b...

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... mucositis (an inflammation of the mucous membrane affecting the mouth or digestive system). However, the Paediatric Oncology Group (POG) states that DS-AMKL patients have better prognosis with treatments such as chemotherapy compared to non-DS patients. The causes are still unknown but could be due to drug resistance differences between the two types of patients or the gene dosage effect from extra trisomy 21. Possibly due to the extra copy of trisomy 21 present in DS patients, enhancing the chemo-sensitivity.


The research shows that trisomy 21 and GATA1 are most likely to result in AMKL in DS patients. Trisomy 21 restricts genes as well as cystathionine Beta synthase (CBS) and zinc copper superoxide dismutase. Both are linked to abnormal metabolism of folate, build-up of uracil and high oxidative stress which eventually results in the damage of DNA.

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