Genetics Assignment 2
Harvard References
P4, M3, D2
Single inherited gene disorders
Single gene illnesses are inherited in the typical mendelian patterns of autosomal dominant,
autosomal recessive, X-linked recessive, and X-linked dominant. Mutations in the relevant gene
cause aberrant protein amount or function (Grigorenko, 2008).
Cystic fibrosis
Cystic fibrosis is a hereditary disease that produces a build-up of sticky mucus in the lungs and
digestive tract. This leads to lung infections and food digestion issues. In the United Kingdom, the
new born screening heel prick test detects the majority of cystic fibrosis cases. Symptoms normally
appear in early childhood and vary from infant to infant, but the illness gradually worsens over time,
causing damage to the lungs and digestive system. Treatments are available to assist alleviate the
symptoms of the disease and make it easier to live with, but life expectancy is unfortunately
reduced (NHS, 2020). Although there is no cure for cystic fibrosis, there are a number of therapies
that can help control symptoms, minimize, or reduce consequences, and make living with the
disease simpler. Regular check-ups are required to manage the condition, and a treatment plan will
be developed depending on the patient ’s needs. A team of healthcare specialists treats cystic
fibrosis patients. In certain cases, the ailment will necessitate hospitalisation. The accumulation of
sticky mucus in the lungs can obstruct breathing and raise the risk of lung infection. The lungs may
eventually stop performing correctly. Mucus also clogs the pancreas (the digestive organ),
preventing enzymes from accessing food in the stomach and aiding digestion. This implies that most
cystic fibrosis patients do not absorb nutrients from meals correctly and must consume additional
calories to avoid malnutrition.
Symptoms include (NHS, 2020).:
chest infections that reoccur
wheezing, coughing, shortness of breath, and damage to the airways are all symptoms of
asthma (bronchiectasis)
yellowing of the skin and the whites of the eyes and difficulties gaining weight (jaundice)
constipation, diarrhoea, or a big, unpleasant passing of faeces
a bowel blockage (meconium ileus) in newborns - surgery may be required
Diabetes, thin, weakening bones (osteoporosis), infertility in men, and liver difficulties are
among diseases that can arise in people with the disease.
People with cystic fibrosis have a higher chance of developing certain conditions among them are:
Osteoporosis (weak and brittle bones) – bisphosphonate drugs can sometimes assist
diabetes – insulin and a particular diet may be required to regulate blood sugar levels
Nasal polyps and sinus infections can be treated with steroids, antihistamines, antibiotics,
or sinus flushes.
Women with cystic fibrosis can have children, but males with the disease won't be able to
father a kid without the intervention of reproductive specialists.
Cystic fibrosis patients should avoid direct contact. This is because they are more prone to spread
diseases and are more susceptible to problems if they do.
Huntington’s disease
,Huntington's disease is a progressive neurological disorder that causes sections of the brain to cease
functioning normally. It is inherited (passed down) from one's parents. It progressively worsens over
time and is typically deadly after up to 20 years. The symptoms normally appear between the ages of
30 and 50, but they might appear considerably earlier or later.
Huntington's disease symptoms might include (NHS 2020):
memory gaps and difficulties concentrating
depression clumsiness and stumbling
mood swings and personality changes issues uncontrollable jerking or fidgety motions of
the limbs and body difficulties swallowing, speaking, and breathing
In the latter stages of the disease, full-time nursing care is required.
Huntington's disease is caused by a defective gene that causes progressive damage to areas of the
brain over time. You're more likely to have it if one of your parents has it or has had it. It is available
to both men and women. If one of your parents carries the Huntington's disease gene, you're more
likely to:
Each of their offspring has a one-in-two (50 percent) risk of acquiring the disease; afflicted
children can also pass the gene on to any children they have.
Each of their offspring has a 50 percent chance of never having the disease - unaffected
children cannot pass the disease on to any children they have.
Huntington's disease can strike anybody without a family history of the condition. However, this is
frequently due to the fact that one of your parents was never diagnosed.
Huntington's disease has no treatment and no means to prevent it from becoming worse. However,
therapy and assistance can help to alleviate some of the issues it creates, including:
depression drugs, mood swings, and involuntary movements
Speech and language therapy for food and communication difficulties occupational therapy
to aid with everyday duties
physiotherapy to aid mobility and balance
For the individual with Huntington's disease, as well as their loved ones and caregivers, living with
the disease may be exceedingly unpleasant and frustrating.
Multifactorial gene inheritance disorders
Genetic Disorder That Is Multifactorial and Polygenic (Complex) (News-Medical, 2009). Polygenic
inheritance can be defined as complex features controlled by multiple genes at several loci without
the impact of the environment. The effects of those genes are progressive, which means that no one
gene is dominant or recessive to another.
Diabetes
Type 1 diabetes is caused in part by heredity. While having a genetic tendency to type 1 diabetes
does not guarantee that you will get it, it does considerably raise your risk, and having type 1
diabetes in your parents or siblings increases your risk. The level of glucose (sugar) in your blood is
too high in type 1 diabetes. It occurs when your body is unable to create enough insulin, a hormone
that regulates blood glucose levels. To keep your blood glucose levels under control, you must take
insulin every day (NHS 2020). If your kid has type 1 diabetes, they will be cared for by a children's
(paediatric) diabetes care team until they are about 17 or 18. The care team will assist with things
like insulin injections, blood glucose tests, and food in order to manage your child's type 1 diabetes.
They can provide school or nursery advise and speak with your child's teachers and caregivers. At
, the start, you'll have appointments with the care team every one or two weeks and then these will
be every three months when you start to handle things properly.
You have type 1 diabetes symptoms such as (NHS 2020):
feeling extremely thirsty
urinating more than normal, especially at night
feeling extremely exhausted
losing weight without trying
thrush that keeps reappearing blurred vision cuts and grazes that do not heal fruity-
smelling breath
Symptoms of type 1 diabetes can appear suddenly, especially in youngsters.
Your doctor will do a urine test and maybe a blood glucose (sugar) test. If they suspect you have
diabetes, they will advise you to go to the hospital right immediately for testing. You'll be admitted
to the hospital until the blood test results come back. This normally happens the same day. If you've
been diagnosed with type 1 diabetes, a diabetic nurse will explain you how to manage it, including
how to test your own blood glucose and inject insulin.
Bipolar disorder
Bipolar disorder is a mental illness that alters your emotions and causes them to bounce from one
extreme to the other. Manic depression was the old name for it. Family members of those who have
bipolar disorder are more likely to develop it themselves. However, bipolar disorder is caused by a
combination of genes. A variety of genetic and environmental variables are considered to serve as
triggers instead.
Bipolar disorder patients experience mania which means feeling extremely high and energetic or
feeling extremely low and lethargic are all symptoms of bipolar illness (NHS 2020). The symptoms
of bipolar disorder differ depending on your mood. Bipolar disease episodes, unlike ordinary mood
swings, can last for weeks at a time (or even longer).
Depression:
You may well be diagnosed with clinical depression before you have a manic episode (which could
come years later). You might then be diagnosed with bipolar disorder. You may have overwhelming
feelings of worthlessness during a depressed episode, which may lead to suicide thoughts.
During a bipolar disorder manic episode, you may:
feel extremely happy
have a lot of energy and have big ambitions and ideas
Spend a lot of money on goods you can't afford and wouldn't desire otherwise
It's also typical to:
not feel like eating or sleeping, you might easily become irritated and can feel incredibly
creative and see a bipolars manic period as a wonderful experience.
However, you may develop psychotic symptoms, such as seeing or hearing things that aren't
there or being persuaded of things that aren't real.
There are various treatment options for bipolar illness that can help.
They are designed to assist people with bipolar illness manage their symptoms and live as normally
as possible.
There are several therapy options available (NHS 2020):
