Genetic Disorders: Case Study 3 Β-Thalassemia

Sickle cell disease is a disease that is most prevalent in people of African descent along with people of Mediterranean and Middle Eastern origin. This disease is known to affect about 70, 000 Americans and about 2 million people carry the trait (meaning that, they carry a single gene mutation).

(TCO 6) Which of the following is a genetic disorder resulting in debilitating protein abnormalities?

Then the sickle cell allele frequency HbS will survive and have an increased frequency while HbA allele frequency will decrease.

Sickle cell anemia is a blood disorder that happen very commonly in the African descent.

Sickle cell disease is an inherited form of anemia. This means both parents must pass on the defective gene for a child to be affected. The gene is more common in families that come from Saudi Arabia, Africa, Mediterranean countries, India, the Caribbean islands, and North, South, and Central America of African descent.

The cause of sickle cell anemia is by a mutation gene. The gene tells your body to make hemoglobin. Hemoglobin is responsible for giving the blood its red color and allows the red blood cells to carry oxygen from your lungs to all the parts of your body. The sickle cell gene is passed down from one generation to the next and is inherited. It is called autosomal recessive inheritance. This happens when both the mother and father pass on the detective form of gene. If only one parent passes on the sickle cell gene to the child that means the child will have the sickle cell trait. People who have the sickle cell trait are carriers and can pass the defective gene to their children. Your ethnic background can put you at risk for sickle cell anemia.

When the chromosomes are inherited, a mutated gene can be passed from carrier or afflicted parents to their offspring. The inheritance of sickle cell disease therefore depends on this mutation. Afflicted people have a mutation on chromosome 11 which codes for the beta subunit of haemoglobin. It reflects a single base change (GATGTT) of amino acids that distorts the erythrocytes into a severely concave shape at low oxygen concentrations (reference). If one beta globin is sickle and the other is normal, the person is not anaemic, however they are an autosomal heterozygous carrier of sickle cell disease. If both beta globin genes are affected by the mutation, the person is homozygous recessive and becomes

Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. It is a type of sickle cell disease. Affected people have a different change (mutation) in each copy of their HBB gene: one that causes red blood cells to form a "sickle" or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can

When a subunit binds to oxygen, it changes it conformation and sends messages to other subunits to bind to oxygen as well. When more hemoglobin monomers (subunits) bind to oxygen, it is increasing hemoglobin’s affinity to oxygen, thus leading to better cooperativity. It was also discovered that there is a higher affinity for purified hemoglobin rather than the hemoglobin inside the red blood cells due to the anionic compound 2,3-bisphosphoglycerate (2,3-BPG). This molecule binds to hemoglobin in a small pocket only found in the T state when it is deoxygenized and allows it become stable. It further causes a reduction in hemoglobin’s affinity to oxygen, working out in its favor. During the transition from T to R state, the pocket containing 2,3-BPG is broken and

Imagine living a life with misleading information about a younger sibling's death. Many wonder why God took them, but not myself. For the simple fact the morning of Madison’s passing God told me everything would be okay. Experiencing this at such young age makes thou think of the extreme; however, it makes thee stronger. The idea of this paper is to break down the information and show everyone how Sepsis breaks down the body. Along, with linking Sepsis with Sickle Cell Trait when the body is already weak and cannot fight off the infection.

People who have Alpa and Beta Thalessemia trait have mild anemia. Most people are asymptomatic except feeling of tiredness.

In the ER, I have an African American female patient, age 32, who presents with sickle cell anemia. She has come into the emergency room with 2-day history of heart palpitations, headache, dyspnea, fatigue, and back pain. She states her appetite has decreased. She states that she is voiding well and having regular bowel movements. The backache extends from above the lower T-spine to the lumbosacral spine. The patient is allergic to codeine but states she is able to take morphine. She is currently taking folic acid and Tylenol. She has had no previous surgeries and denies any smoking or drug use. Upon examination, her vitals were the following; a temp of 38 degrees tympanic, pulse was 105 BPM indicating tachycardia and blood pressure is 115/50

Proteins play a critical role in normal human function and are made up of a sequence of amino acids that have to be precise, to allow for proper folding to a functional three dimensional structure (confirmation). This sequence is coded in the DNA in genes and hence any changes through mutation or allele combinations can cause a change in the protein(s) coded, resulting in a diseased state. Such a case is a disease called Cerebroarterial Amyloidosis, Icelandic type (CAI) that arises from a mutation on chromosome 20 in the CST3 gene located in the short arm of the chromosome (20p11.21).1 It is an autosomal dominant hereditary disease and the mutated gene leads to the protein translated (cystatin C) having a leucine being substituted with a Glutamine

This disease can be deadly and needs to be discussed. During the lecture about chapter five, the

Sickle cell disease is considered to be one of the most common monogenic disorder globally. [1] Recent studies suggested that between 300.00- 400.00 new born with heamoglobinopathies each year in the developing countries .[2] it was reported that about 5 % of the world population are carriers for heamoglobinopathies (2.3 for sickle cell disease and 2.9% for thalassemias ). [3, 4] Heamoglobinopathies is one of the world’s major health problem with high mortality rate.[5] Several epidemiological studies show that Saudi Arabia has a relatively high prevalence of hereditary heamoglobinopathies .