Genes and diseases Case 1

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Genesand diseases


Yes,the couple should worry because it is likely that their child willinherit the gene for beta thalassemia deficiency since it is agenetic disorder (penetrance). They are both carriers of this allelealthough they do not express it. They have the different alleles forthis condition which implies that one is recessive thus the traitcannot be expressed and it will be passed on to their offspring.Therefore, they are 25% likely to conceive a child with betathalassemia. This implies that there will be a problem in theproduction of hemoglobin due to beta thalassemia blood disorder. As aresult, there will be an issue in the supply of oxygen in many partsof the body thus inconveniencing the functioning of the body(Kulminski,et al. 2016).Environmental factors do not play a crucial role since it is a bloodcondition thus no direct relationship exists oxygen in the blood andthe environment.


Thiscondition is due to environmental influence though it is partlyinherited. The presence of the two alleles rs708272(C C) and rs662(A A) increases the risk of having coronary heart diseases. The riskassociated with consumption of higher amounts of fats in her dietthat increases the chances of contracting coronary heart disease. Sheis expected to watch for any high amounts of fats in the diet thatshe consumes to avoid any heart failure. However, the presence of theallele for alcohol consumption (rs708272(C C)) reduces the riskpertinent. Consumption of lower amounts of alcohol reduces the riskwith odds ratios of 1.12 compared to those who consume higher amountsof alcohol. As a result it is evident that small amount of alcohol ishelpful for those individuals with the allele for alcoholconsumption. Therefore, it is expected that she should continueconsuming little amount of alcohol just like she did previously sinceit is beneficial. Alternatively, she can take part in physicalexercises to help in burning body fats thus reducing the risk ofheart diseases (Kulminski,et al. 2016).


AttentionDeficit Hyperactivity Disorder (ADHD) is a mental disorder in bothchildren and adults and it is normally inherited. It is associatedwith loss of concentration in the affected individual especially whenthey lose interest in it. From the data provided, her probability ofhaving ADHD is 0.75(75%). In this case, she should ensure that sheparticipates actively in the school activities both in class andrecreation centers to ensure maximum concentration from her. Sheshould also develop an interest in most of the class work so that shecan pay attention in class. It is also evident that people with ADHDare highly likely to be addicts of substance abuse. Researchindicates that persons with this condition have an allele foralcoholism which makes them susceptible to addiction. Some of thedrugs used in the treatment of ADHD include Ritalin which is almostsimilar to cocaine in their functioning. An alternative to this isusing non-stimulant medicine to treat ADHD to avoid addiction.


Typicallythe child has various excellent traits of outstanding memory andmusical aptitude. To improve the endurance of the child, she shouldparticipate in physical exercises such as playing football andrunning competitions with her friends. Additionally, she can ride abicycle so that she develops excellent stamina in her lower body. Inaddition, it is important to encourage her on the importance ofphysical exercise to boost her morale in the field. It is crucial tonote that all these conditions are related to the surrounding andthus repeated exercise can yield fruitful results.


Kulminski,A. M., Yashin, A. I., Culminskaya, I., Land, K. C., &ampUkraintseva, S. V. (2016). The Complex Role of Genes in Diseases andTraits in Late Life: An Example of the Apolipoprotein E Polymorphism.In&nbspBiodemographyof Aging&nbsp(pp.211-230). Springer Netherlands.

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