Diamond Blackfan Anemia Research Paper

Sickle Cell Anemia is a genetic disease which can only be caused by both parents passing the sickle cell gene down to their offspring. About 2 million Americans carry the Sickle Cell gene but don’t have the disease. If two people with the gene marry, there’s a one in four chance that their children can end up having the disease. The gene is common with African, Spanish, Mediterranean, Middle Eastern, and Indian people. In the United States, Sickle Cell Anemia affects 1 in every 500 African American children born, and 1 in every 900 Hispanic children born.

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

Sickle Cell Anemia or Sickle Cell Disease (SCD) is a passed down blood disorder that attacks and destroys the red blood cells. This Disease was first discovered back in 1910. The disease was first described as a clinical entity by Herrick1 in 1910 (Anderson & Ware 1932). Sickle cell sickness is brought about by a change in the hemoglobin-Beta quality found on chromosome 11. Hemoglobin transports oxygen from the lungs to different parts of the body. Red platelets with typical (hemoglobin-An) are smooth and round and coast through veins. Typical red platelets are round like doughnuts, and they travel through little blood tubes in the body to convey oxygen. Sickle red platelets turn out to be hard, sticky and molded like sickles used to cut wheat. At times these blood cells can become crescent shaped and have a hard time passing through small blood vessels, this keeps red blood cells and the oxygen they carry from getting to all parts of the body. This causes less blood to reach the body at this point the tissues that have not received a normal blood flow will become damaged. Individuals who have sickle cell

In 1872 Michael Anton Biermer described a blood condition in a German article. He chose to name the rare disease he discovered “Pernicious anemia” because of the lethality and incurability at the time. Biermer’s disease or Pernicious anemia is a genetic disease where patients’ stomachs do not produce intrinsic factor which is a protein of the mucus membrane layer of the stomach.When the stomach does not make enough intrinsic factor, the intestine cannot properly absorb vitamin B12. The body needs vitamin B12 in order to function properly and remain healthy. Vitamin B12 assists in the production of red blood cells, DNA, and tissues, while helping keep nerve cells alive and healthy.This vitamin is found in many animal products such as beef, poultry, shellfish and more.

"The average age of diagnosis is age 60"[4]. In medicinal and family history doctor sometimes asks symptoms or sign for instance, if the patients have any stomach or intestinal surgeries, and have a digestive disorder, about medicine taking, or have family history of anemia or pernicious anemia. Moreover ,In bodily test doctor looks in pale or yellowish skin, heartbeats. Furthermore, there are a lot of tests and procedures aid to diagnose pernicious anemia. The first a test is complete blood counts used to diagnose kinds of anemia due to measure parts of blood, hemoglobin ,and red blood cells then if the result confirms that have anemia, so there are other blood tests to define which kind of anemia have. For example, A reticulocyte which is a test that counts red blood cells, and appears if the bone marrow is creating red blood cells correctly, but in pernicious anemia, the result is low then Serum folate and iron binding capacity exams are used to defined if patients have pernicious anemia or not. In addition, doctors advice another red blood tests to know vitamin B12 because if vitamin B12 is low, consider a sign of pernicious

Sickle cell anaemia describes a hereditary autosomal recessive disorder that affects a protein found in red blood cells (erythrocytes) called haemoglobin. This disease results in 100% of blood cells becoming sickle shaped. The co-dominant sickle cell disease entails half of the erythrocytes becoming sickle shaped and the remaining half as normal biconvex structures, however, these people are carriers and can pass the disease or anaemia onto their offspring. Prevalence of significant morbidity and mortality of sickle cell disease is clear in Africa, the Mediterranean, India, Central America and the Carribean, with estimates suggesting 250 000 children are born annually with sickle cell anaemia (reference). Haemoglobin ss the autosomal recessive genotype, inherited from both parents, causes the phenotype of sickle cell anaemia. When erythrocytes become rigid and sticky, they cannot flow smoothly through small vessels, consequently, slowing or blocking blood flow and oxygen around the body. This prevents oxygen from reaching vital organs such as the spleen, liver, lugs, heart and kidneys, causing extensive damage as lack of oxygen results in cell death.(1) Sickle cells only live an

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

Sickle cell disease (SCD) is calamitous defect of the red blood cells (RBC’s) resulting in an impairment if he circulatory system, damaging tissue, causing dangerous anemia, deadly infections, and infarctions (Redshaw, & Martin, 2013). SCD patients live two to three decades less than their healthy peers, affecting up to one-hundred-thousand American’s, with the vast majority of African descent, and a small fraction of Hispanic, Asian Indian, Middle Eastern and Southern European (Redshaw, & Martin, 2013). More than 90% of children diagnosed with SCD in The United States, will reach adulthood; consequently, the majority of SCD diagnosis occur during mandatory routine newborn health screenings (Redshaw, & Martin, 2013).

Even the slightest changes within a single protein may greatly affect the health of a human being and their descendants. Sickle cell blood anemia is a type of blood disorder in which the proteins within the affected person have slightly mutated in order to form a sickle shaped cell. This can cause chronic health problems to a patient that has sickle cell anemia since their sickle shaped blood cells may obstruct their circulatory system. Despite this disease being chronic, a patient can only get sickle cell anemia if they have inherited it. Sickle cell anemia is most commonly inherited by African Americans and Hispanics. In other words, sickle cell anemia is a chronic disease in which a person is inheritably born with some sickle shaped blood

Sickle cell anemia is a disease that is caused by abnormal hemoglobin. The abnormal hemoglobin syndicates with other abnormal hemoglobin molecules to cause rigid distortion of red blood cells. HbF or fatal hemoglobin is a crucial modifier of the severity of sickle cell anemia. An organism was produced that yields a high concentration of HbF, which is used to help treat sickle cell anemia. To determine the organism, total protein was isolated and an enzyme analysis was preformed using spectrophotometry, sequences of the strains were analyzed to conclude which stain produced beta-galactosidase under various nutrient conditions, and cells were observed with and without plasmids

Myelodysplatic syndromes are a group of blood and bone marrow disorders. In MDS, the stem cells do not mature as expected, and the number of immature cells and abnormally developed cells increase, which then leads the healthy mature cells to decrease. So then that causes the bone marrow to not work well or stop working all together. Because of the decrease in the healthy cells, people with MDS often have anemia, a low red blood cell count or they may also have neutropenia, a low white blood cell count, and thrombocytopenia, a low platelet count. The chromosomes in the bone marrow cells may be abnormal, but sometimes the numbers of blood cells can be normal, while the blood and bone marrow cells are still abnormal. MDS is classified into several different subtypes, depending on blood cell counts, the percentage of blasts in the bone marrow, and the risk that

Ribosomes are they key function to making proteins, and we make a lot of them. Some of you were mudslinging us, which is understandable, but you said ribosomes cause diseases. So we went out and found a disease that ribosomes cause. Ribosomes can cause Diamond Blackfan Anemia. Diamond Blackfan Anemia or DBA is a rare blood disorder. In DBA, the bone marrow which is the center of the bone where blood cells are made, does not make enough red blood cells that carry oxygen throughout the body. It is passed down from genetic causes. According to the DBA Foundation many patients are diagnosed within their first year of life and can still live normal lives when given proper medical treatments. Also if you have DBA your children have a

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

For children suffering from autoimmune hemolytic anemia, therapy and treatment will be based upon the child’s age, the general health of the child, and the child’s medical record. Treatment will also depend on the extent of the anemia, the cause of the anemia, and the child's tolerance for certain medications, and potential course of the anemia. The treatment for children with autoimmune hemolytic anemia may consist of blood transfusions, corticosteroid medications, and possible surgical removal of the spleen, for children who do not respond to other treatments.

Shwachman-Diamond syndrome, also known as SDS, is a rare inherited bone marrow failure. Shwachman syndrome is characterized by poor growth due to difficulty absorbing food, a low number of blood cells, and in some cases skeletal abnormalities. The condition was discovered in 1964, among researchers at the Boston Children’s Hospital. Doctors that were among the researchers, Harry Shwachman and Louis Diamond gave this rare syndrome, the name Shwachman-Diamond syndrome (Farber, 2007)