INTRODUCTION Alpha (a) thalassaemia, is the most common inherited disorder of hemoglobin (Hb)

There are four blood types found in humans. These are A blood type which has the genotype either AA or AO, B blood type which has the genotype either BB or BO, AB blood type which has the genotype AB, and O blood type which has the genotype OO. These genotypes show a combination of complete dominance and codominance. A and B traits are dominant to the recessive O trait, however, the A trait is codominant to the B trait. Each blood type codes for certain antigens. A blood codes for the A surface antigen, B blood codes for the B surface antigen, AB blood codes for both the A and B surface antigen, and O blood does not code for a surface antigen. Therefore to determine one’s blood type a test can be performed

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

Sickle cell anemia (SCA) is an inherited blood disease which causes normal, round, healthy red blood cells to transform into sickle-shaped cells. Normal red blood cells are flexible and can easily pass through capillaries to bring oxygen to different parts of the body. However, sickle cells are fragile, and can easily die, leading to anemia (red blood cell deficiency). SCA can also cause blood vessel occlusion (blockage of blood vessels), tissue infarctions (death due to lack of oxygen), bone, joint, and abdominal pain, yellow eyes and skin, pale skin, delayed growth, increased risk of infections, and damage to organs. The disease is passed on by autosomal recessive inheritance, which means both parents of a child must have the defective gene for the child to be affected. If only one gene is inherited, the victim becomes a carrier of the sickle cell trait, producing only some sickle cells with little or no symptoms. This means two people with the trait have a 25% chance of having a baby with sickle cell disease, 25% chance of them having no defects, and 50% chance of the baby becoming a carrier as well. When the gene is inherited, it mutates the beta (β) globin gene in chromosome 11, changing the hemoglobins produced using instructions from the gene from a healthy hemoglobin A (Hb A) to a mutated hemoglobin S (Hb S). Many tests can be done to check for sickle cell disease, the most common being an ordinary blood test, where the blood is examined for hemoglobin S. If the

Also known as normocytic anemia. This is the most frequent type of anemia most often happening to males over 85 years old. It is a common problem that occurs to men and women over 85 years old. Symptoms include and are caused by: a reduced production of normal-sized red blood cells even though presence of hemoglobin in the red blood cells is within the standard range; an increased production of HbS as is seen in sickle cell diseases; greater destruction and loss of red blood cells; an increase in plasma volume that is not compensated by anything else; a B2 (riboflavin) deficiency; and a B6 (pyridoxine) deficiency. (Brill & Baumgardner 2000).

They are classified according to different mutations in the hemoglobin genes. The four main types are: Hemoglobin SS (HbSS), Hemoglobin SC (HbSC), Hemoglobin SB+ thalassemia (HbSB+), and Hemoglobin Beta- Zero thalassemia (HbB0). The most severe of these is the Hemoglobin Beta Zero. Beta thalassemia is classified into two kinds depending on the harshness of their symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. Of the two types, thalassemia major is most severe. (Mohamed PhD & Boskey PhD, 2012)

People with this condition are requiring a careful medical management to stay healthy and avoid complications of the illness and often require blood transfusions during significant illness or pregnancy (Children's Hospital Boston). Beta Thalassemia major originally called Cooley's anemia, is the most severe form of beta Thalassemia. It is caused by significant mutations on both of the beta chains. Patients with this illness require frequent blood transfusions to survive. They also require chelating therapy to remove excess iron that can build up in their bodies and cause extensive damage (Children's Hospital Boston).The symptoms of this type include fatigue and weakness, pale skin or jaundice, protruding abdomen with enlarged spleen and liver, dark urine, and abnormal facial bones and poor growth (Clinaero, n.d.).

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

According to the American Society of Hematology, approximately 35 million people in the United States are over the age of 65, and almost 10 percent of this population is currently anemic. Anemia occurs when red blood cell counts drop, or when red blood cells do not contain enough hemoglobin. In chapter seven of Biology Today and Tomorrow without Psychology, we learned hemoglobin is an oxygen-binding protein in red blood cells that consists of four polypeptides (2-alpha globins & 2-beta globins). Each globin holds a cofactor called a heme, and each heme has an iron

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

We hypothesized that similar proteins would also be present in bovine blood, yet the major band present in this sample was located at much higher molecular weight of approximately 45 kDa. Potential causes in weight differences could be the longer amino acid sequence present in rabbit hemoglobin, 170 amino acids, versus the 145 amino acids present in bovine hemoglobin, yet this would result in bovine being further down on the gel versus what is actually shown (Altschul et al, 1997). Given the data obtained, potential misidentification of hemoglobin appearing as the main protein present or possible error in lane one (rabbit blood), could explain the anomaly in

This primary research article reviews the use of tandem mass spectrometry (MS/MS) for screening of inherited metabolic disorders and protein identification, while establishing a basis for hemoglobinopathy screening.

Hereditary Hemochromatosis is a genetic disorder found on the HFE protein and has been found to alter the body’s capability to manage the absorption of iron. Hemochromatosis originates from the Latin terms Hemo- (blood) + chromo- (color) + -osis (disease or abnormal increase). Hemochromatosis can have early signs and symptoms. These may include one to suffer from joint pain, abdominal pain, show signs of weight loss and potentially show a reduction in sexual desire. Other signs and symptoms, which usually occur in the late onset stages, may include diabetes, arthritis, and potential risk of having or having liver disease and heart complications. In relation, emergence and advancement of these signs and symptoms in an individual can be affected by epigenetic factors such as environmental factors that play a key role in switching genes on and off. Hereditary Hemochromatosis can be classified into 4-type’s correlating with when the age of onset occurs or how it’s inherited. The first type, or type-1, is the most common of the forms in Hereditary Hemochromatosis. In relation to type-4, both type-1 and 4 have

In the experiment, they used 20 human mouse somatic hybrid cells each of which contained a 17 different subset of human chromosomes. During this experiment, only 10 % of the cells hybrid population is relevant to determine the presence of the Hbb gene on human chromosomes. To identify human chromosomes in each human-mouse hybrid clone, researchers characterized each cell line by two staining techniques which were Giemsa 11 staining and Giemsa trypsin-Hoechst staining. It was found that all human chromosomes that were present in one or more cell lines entirely lacked human β globin gene except for 6, 8,9,11 and 13. And among these chromosomes, only chromosome 11 was positive with a high frequency of Hbb gene in all the hybrid cells lines. And also among two sister clones, 157-BNPT-4 and 157-BNPT-1 which had similar chromosomes it was found that Chromosome 11 was present in 157-BNPT-4 except for 157-BNPT-1 where 157-BNPT-4 contained hemoglobin beta gene. (Deisseroth, A.,

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

Alpha hemoglobin have two identical gene, which are called alpha hemoglobin 1 gene and alpha hemoglobin 2, which gives instructions on the production of a protein called alpha-globin. Alpha-globin is a piece of a large protein called hemoglobin. Hemoglobin molecule is a complex of two alpha chains and two beta chains and is a primary part of red blood cell cytoplasm and transport molecular oxygen from the lungs to the tissue and return carbon dioxide to the lungs. It is composed of two identical globin chains, which transports heme molecules and heme molecules are needed for red blood cells to pick up oxygen in the lungs and deliver it to the body’s tissues. In this report, I analyze the homology of alpha hemoglobin of human (Homo sapiens),