A Research Study : The Haemoglobinopathy, A Severe Blood Disorder And Its Effects On African People

believed that genetically aberrant hemoglobin evolved as a protection against malaria."(2) It has also been said that, "People with a single copy of a particular genetic mutation [sickle cell trait] have a survival advantage. One copy of the mutation confers a benefit." (3) Its quite interesting to find that original purpose of this gene was

SCDAAMI population includes all patients with SCD or trait from infancy to 21 year-old and their families.

When Malaria is present and infects red blood cells, parasites can infect cells carrying defective hemoglobin which may result in death. Allele frequency changes over time depending on the pressures or circumstances facing a particular population. African populations are especially impacted by both malaria and sickle cell anemia. Depending on the impacted population, allele frequency often shifts and well suited organisms are likely to survive and allele frequencies can increase. When a population is effected by disease or other circumstances, allele frequency may decrease or change. HbA (normal hemoglobin) and HbS (defective hemoglobin) have varying frequencies and while the HbS gene is present in populations it is

For many years the targeting and murdering of people with Albinism has been occurring in sub-Saharan Africa for spiritual powers, good fortune, and monetary gain. As the world becomes more modern and civilized one would think that this would be coming to an end, instead it has increased over the years. Many solely blame witch doctors, however even with laws preventing this and witch doctors being arrested; the hunting of people with Albinism has spiked. This has led to the need for further research being done on not only witch doctors being the cause, but also more underlying causes that have not been thought about before. In finding these it will help to answer why the albino body part

In the U.S., SCA occurs most often among African-Americans, approximately 10% of whom are carriers of the sickle cell gene. This prevalence results in SCA in approximately 0.2% of live births in the African-American population, or about 1 in 500. In parts of Africa, over 30%

It has been observed in patients with rare alterations of b-thalassemias, such as deletions, resulting in a continuous expression of the fetal hemoglobin, which has led in these patients the ability to overcome the usual clinical manifestations of this syndrome. (4-7) After these initial observations, it was later discovered that insufficient production of b-globin chain in infants with B-thalassemia can be compensated by incrementing the production of the B-like globin, g-globin. The g-globin can pair up with the a-gobin chains to form HbF. This increased fetal hemoglobin can provide a balanced recovery caused by the deficiency in adult hemoglobin that leads to inefficient erythropoiesis, elevated hemolysis, and a decreased survival of red blood cells. (4) With this in mind, new studies have been focused in examining the mechanisms that precede natural higher levels of

This review article covers establishment of comprehensive healthcare programs for patients with SCD from birth to adulthood, to improve their quality and expectancy of life.

The symptoms of Sickle Cell Anemia were observed for over five thousand years in Africa. The first reported case of sickle cell anemia however was in 1846, when an autopsy of a runaway slave showed an absence of a spleen. However, it was first discovered by Ernest Irons, an intern of Dr James B Herrick in the United States in 1910. He viewed an anemic patient’s blood under the microscope and observed “elongated and sickle shaped” red blood cells. However, cases of these sickle shaped red blood cells were of African patients only. In 1922, the disease was named “sickle cell anemia” by Vernon Mason. Hahn and Gillespie discovered in 1927 that red blood cells are made into sickle shaped cells by the change in their molecular structure in the absence of oxygen. In 1948, Watson suggested that infants did not show symptoms of sickle cell anemia because of the presence of fetal hemoglobin, HbF. In 1949, it was shown that the disease was inherited and that only people homozygous for the gene got the disease. In 1951, Linus Pauling and his colleagues showed that sickle cell anemia was caused by abnormality in hemoglobin and had a different chemical structure than normal hemoglobin molecules. They proved the change in structure of sickled cells through gel electrophoresis of hemoglobin from normal blood cells and sickled blood cells. They published the paper “Sickle Cell Anemia, a molecular disease” that spread awareness of the disease. The actual amino acid change however was

In my opinion, based on signs and symptoms this patient suffers from hemolytic anemia, characterized by reduction in the number of circulating red blood cells, caused by accelerated destruction and removal of these cells from the bloodstream before their normal lifespan is over. When blood cells die, bone marrow produces more blood cells to replace them, however, in HA, the bone marrow does not make red blood cells fast enough to meet the body's needs. Many diseases, conditions, and factors can cause the body to destroy its red blood cells. This type of anemia can be inherited, where parents passed the gen to the child (hemoglobin defects, enzyme defects, membrane defects) or acquired, meaning it developed overtime (infectious diseases: hepatitis, streptococcus; medications such as acetaminophen, antibiotics, ibuprofen, interferon alfa procainamide). In some cases, the cause of hemolytic anemia can’t be established.

SCD comes with many complications that should be taken into consideration when caring for a patient with SCD. With the possibility of many of these complications resulting in death, it is vital that APNs provide comprehensive assessments, proactive treatment, and thorough patient education. Upon arrival to the ER, the patient’s needs should be quickly prioritized, keeping in mind, oxygenation, hydration, pain level, and possible infections. It is also important to teach patients with SCD to treat themselves prophylactically by staying hydrated, avoiding cold temperatures, recognizing signs of infection, and reporting any recent changes in health. This will help reduce the number of ER visits for SCD associated complications. The evidence based

SCD begins with a mutation of the genetic makeup of the hemoglobin, a protein contained by red blood cells (RBCs) that deliver oxygen throughout the body. Hemoglobin is made up of two alpha and two beta polypeptide chains made up of amino acids. Normal hemoglobin allows RBCs to take on a biconcave or doughnut like shape and is able to squeeze or alter its shape in order to travel through different sized blood vessels. Hemoglobin has a high affinity for oxygen, is oxygenated in the lungs and delivers the oxygen to the body’s tissues. Once deoxygenated, hemoglobin returns to the lungs to return carbon dioxide and become re-oxygenated.

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

Thus, we were able to name the hemoglobin that composed each sample and name the amino acid associated with the β-globin. Our results showed that the sample of normal hemoglobin (HbA HbA) traveled the most because of its overall negative charge caused by the amino acid glutamate. The sample of sickle hemoglobin (HbS HbS) traveled the least because of its overall positive charge caused by the amino acid valine. Because of its intermediate nature, the sample of sickle trait hemoglobin (HbA HbS) displayed a migration band coinciding with the migrations of normal and mutant hemoglobin. Through gel electrophoresis, we were visually able to detect normal

They couldn’t comprehend the sickled red blood cells where in individuals with SCD, and a significantly lower located with sickle cell trait ( sicklemia). Researching this certain characteristic of the disease and observing the different individuals with two different variants of the disease, led them to insinuate sickle cell anemia was a in some manner connected with genetics. Observing all these different characteristics led Pauling and Itano to study the physical and chemical elements of hemoglobin molecule in three different settings: individuals with SCD, sickle cell trait, and normal hemoglobin structure (Pauling et al., 1949)

Thalassaemia is an anaemic blood disorder caused by inherited deficiency of alpha- or beta-globin synthesis in the production of haemoglobin, a major constituent of erythrocytes (Mosby 2012 p.1760). Although the disorder is now known to affect many individuals and has a vast global distribution, the word ‘thalassaemia’ originally derived from Greek roots for ‘the sea’ and ‘blood’, under the mistaken belief that it was confined to the Mediterranean region (Weatherall 2001, p.1). The disorder was discovered in 1925, when American paediatricians, Cooley and Lee, described a form of anaemia in children of Italian and Greek origin. They termed this form of anaemia ‘Cooley’s anaemia’. Coincidently in the same year in Italy, Rietti discovered a