Beta Globin Case Study

We will not go through the process here, but as an illustration of this “alternate splicing”, remove codons (beads) 52 - 66 from your sentence above.

Was intact to primary modalities in the upper extremities. Decreased in a stocking distribution bilaterally.

described the characteristics and symptoms of this disease and what exact organs it relates to.

Outline the causes, incidence and risk factors of the identified condition and how it can impact on the patient and family

There are numerous forms of the disorder, and classification depends on what blood cells are affected and exactly how they are changed. Medical

Myotonia is developed by the over expanded trinucleotide creating a toxic mutant RNA sequence. According to Wheeler, Lueck, Swanson, Dirksen, & Thornton (2007) the mutant RNA is responsible for the unregulated splicing

It took an additional six years for researchers to glimpse at the functions provided by SMN1. Meister et al. categorized the SMN1 protein an essential to promote correct assembly of U12 small ribonucleoproteins (snRNPs). In genetics, snRNPs are nucleic proteins responsible for the splicing of premature ribonucleic acid chains (pre-mRNA) derived from genes. Without correct splicing, mature ribonucleic acid chains (mRNAs) produce dysfunctional proteins when translated. In this case, splicing functionality of U12 - intron containing transcripts is lost, and because the transcript is wrongly coded, its translation will produce a functionless protein. Hence, loss of SMN1 results in an inability form U12 snRNPs splicing complexes, and reduced splicing functionality results in loss of U12 - intron splicing functionality (Patel and Steitz, 2003).

The clinical presentation of patients with aplastic anemia includes symptoms related to the decrease in bone marrow production of hematopoietic cells. Specific manifestations include pallor, headache, palpitations, dyspnea, fatigue, or ankle edema (Porth, 2015). Signs and symptoms of aplastic anemia may include nosebleeds and bleeding gums, frequent or prolonged infections, and pharyngeal ulcerations. Patients with aplastic anemia commonly present with symptoms of pallor, headache, palpitations, dyspnea, easy bruising and fatigue (Porth, 2015). Other symptoms include visual disturbance due to retinal hemorrhage, petechial rashes, SOB with exertion, dizziness (Porth, 2015). Patients with aplastic anemia also present with jaundice and evidence of clinical hepatitis (Porth, 2015). Obtaining work history, solvent exposure, as well as a family, environmental, and infectious disease history (Musser, 2006). The clinical presentation of

Binding of CO to hemoglobin is greatly affected to anemic and smoking individuals. Hemoglobin plays a major role in our body to transport oxygen. Since hemoglobin has a higher affinity for oxygen, it binds to an oxygen molecule and increases its oxygen concentration. Thus, when the blood cells are at a different part of the body where the oxygen concentrations are low, the oxygen will leave the hemoglobin and diffuse into the cells. However, carbon monoxide has a 250 fold greater affinity than oxygen. So, when CO enters the blood from the lungs, CO would bind with hemoglobin instead of oxygen, and block the blood’s ability to carry oxygen to the cells throughout the body. In a normal healthy individual, the total carboxyhemoglobin (COHb) complex is 1% or less, whereas, smoking increases COHb to 3-8% and further to 15% for chain smokers. When smoking a cigarette, CO binds to hemoglobin and displaces to

Seizures, jaundice, elevated iron, enlarged liver, elevated copper, inability to move, poor sucking ability, vision disturbances, lack of muscle tone, difficulty swallowing, intellectual disability, prenatal growth failure, gastrointestinal bleeding and characteristic facial characteristics.

The Hematologist will decide on which treatment the patient should receive and will go from there to create the treatment plan. These days, doctors to not want to remove the spleen unless it is a dire situation. The doctor will first administer a blood transfusion to try and balance the hemoglobin count. If this form of treatment is unsuccessful, the hematologist will then decide on performing a splenectomy to resolve the issues. Many a cases are resolved and the person will go on to lead a perfectly healthy life and will not have any lasting effects from the disorder or surgery. Although most people will go on to have a “normal” life, there are at least 30% of these people who will always deal will effects of the disorder. These effects can range from mild anemia, to severe immune system problems along with almost crippling anemia. Anemia is a common side effect that in many cases can simply be resolved by taking a multivitamin designed to help with iron deficiencies, whereas, some of the people’s anemia is not easily fixed requiring them to have multiple blood transfusions administered over their lifetime, Furthermore, having this particular disorder does not necessarily mean that the person’s life is forever changed; it just means they have had to endure a lot of medical procedures to be able to live a long and healthy life. Spherocytosis is a rare but potentially deadly blood disorder if not properly diagnosed and

Investigating haemoglobin (Hb) concentration in blood samples using the haemoglobincyanide method and in foetal haemoglobin samples

Also, there are “physical signs and symptoms associated with the illness; “slow heart rate, low blood pressure, hair loss, brittle nails, weakness, swollen joints, constipation, fatigue and dry and yellowed skin, and in many cases infertility (Michel and Dillard

Diamond Blackfan anemia (DBA) is a rare genetic disease that causes defects in the ribosomal structure (Farber, 2016). The disease stems from a decrease in the production of erythroid precursors in the bone marrow, which results in an extremely low red blood cell count. Due to the reduction in the production of erythrocytes, most individuals diagnosed with this disease develop an array of issues that can be life threatening such as a predisposition to cancer and bone marrow failure. Within the first year of life, most symptoms of DBA will appear in most individuals (Ellis, 2014). The importance of understanding the genetics of DBA remains a priority in reducing the number of infants affected by a detrimental hereditary blood disorder.

PCR primers (FP1 & RP1) are specifically designed that only specifically bind to the HBB −28 (A>G) mutant fragment.1