Thalassaemia - Lab Report Example

Thassaleamia Lab Report Questions Samples Sample A: Polycythaemia vera Sample B: β-thalassaemia trait Sample C: Leukemia SampleD: β-thalassaemia homozygoteSample E: β-thalassaemia trait2. Causes of ThalassaemiaThalassaemia is a blood disorder with inherited autosomal recessive features that affect the amount and nature of haemoglobin produced by a person. Most of the syndromes of α-thalassaemia result from gene deletions or gene mutations in one or more of the four α-globin gene copies. The syndromes of β-thalassaemia result from nucleotide deletions or substitutions in sets of intact genes.3. Classification of both types of thalassaemiaClassification of thalassaemias usually depends on the globin chain type with reduced synthesis.

There are four different classes of α-thalassaemia. There is the silent carrier state, which has one affected α-globin gene. Then there is the α-thalassaemia trait characterized by two affected α-globin genes. Hemoglobin H disease is the third type classification of α-thalassaemia which has three affected genes. Finally, there is the α-Thalassaemia Major that has four affected α-globin gene (Weatherall and Clegg 2008).There are three different types of β-thalassaemia. The first one is β-thalassemia trait which has one mutated β-globin gene and one normal one.

The second one is Thalassaemia Intermedia, which has two abnormal l genes although there is a little production of β-globin. The third is Thalassaemia Major in which there are two abnormal genes that cause extreme decrease or complete lack of β-globin production (Weatherall and Clegg 2008).4. Separating different haemoglobinsHaemoglobin electrophoresis is a method used to separate the different blood haemoglobin types in a procedure that uses cellulose acetate in alkaline buffer. The process involves the use of extremely small samples of haemosylates prepared from whole samples of blood.

These samples are applied to the Titan III Cellulose Acetate Plate whereby the haemoglobins in the samples undergo separation by electrophoresis with the use of an alkaline buffer. The pH of the buffer ranges between 8.2 and 8.6. They are then stained with Ponceau S Stain and the resulting patterns that form are scanned on a scanning densitometer followed by determining the relative percentage of each band.5. Why TF is diluted to 15ml whereas SF is collected in 3ml.TF is diluted to 15ml, and SF is collected in 3ml so as to maximize absorption in the spectrometer.

This, however, does not affect the results because they were diluted using distilled water. Distilled water is free of ions and other soluble contaminants and; therefore, cannot affect the result of the experiment.6. Cationic amino acids and anionic amino acids.The pH of the solution in which amino acids are dissolved mostly determine their ionic state. Cationic amino acids exist at low solution pH of approximately 1. An increase in solution pH causes the carboxylic group of the amino acid to ionize.

Further increase in pH causes continued ionization of the carboxylic acid group until when it loses its proton thus its charge (Weatherall and Clegg 2008).Anionic amino acids occur at high solution pH of 12. A decrease in pH will cause the deionization of the carboxylic group of the amino acid thus a reduction of the amino acid in solution. At neutral pH 7, the anionic form of the amino acid is weaker as compared to the pH of 9 in solution. At pH 5, there is a significant reduction in the activity of the anionic amino acid, and the amino acid tends to be more of the cationic form (Weatherall and Clegg 2008).7. Complications of thalassaemiaComplications of the heart are some of the common problems associated with thalassaemia.

An overload of iron in the blood can cause damages to the heart thus result in arrhythmia, pleural effusions, systolic dysfunction, and even heart failure. Detection of these problems can be treated by the use of highly comprehensive chelation therapy.Liver damages can also result from iron overload that results from thalassaemia. Hepatitis, fibrosis, and cirrhosis are some of the liver complications. However, the use of chelation therapy can help prevent further damage, and then administering antiviral medication to prevent infections to the liver.

ReferencesWeatherall, D. and Clegg, J. (2008) The Thalassaemia Syndromes. Hoboken, NJ: John Wiley & Sons.