Beta Thalassaemia - Essay Example

Only on StudentShare

Extract of sample
Beta Thalassaemia

This classification is based on the type of globin chain (alpha or beta) which is affected. This clearly indicates that hemoglobin structure is central to the pathology of thalassaemia. Beta thalassaemia or Cooley's anemia as it is called refers to decreased beta chain production and hence deficits in hemoglobin due to defects in the gene forming the chain
Hemoglobin (Hb) is protein responsible for oxygen carrying in the body. It is made of four peptide chains, two alpha or a chains and two beta or b chains. Hemoglobin synthesis is controlled by genes which are switched on and off at different phases in the human life (beginning at the embryonic stage). Gamma genes regulate formation of fetal hemoglobin, which is switched to beta genes postnatally. It is about the 9th gestational week that the transcription switch from g chain to b chain production starts. Normally fetal hemoglobin synthesis declines gradually during this time but continues until 9 months of age. It is at about the 9th month after birth that the switch is completed.(Sarnaik 2005). This beta gene therein controls beta chain production in adults.
In patients suffering from beta thalassaemia, there is a switch from a normal gamma-globin gene, in the fetus to an abnormal beta-globin gene, in the adult. (Blau 1994). ...
Download paper


The most common 'single gene defect' in man comprises primarily of the inherited hemoglobin disorders. These hemoglobinopathies (blood or hemoglobin disorders) together, also have the highest incidence of prevalence worldwide in terms of incidence of single gene disorders.
Author : eleonorestreich



Related Essays

Specific Disease that Affects a Particular Minority Group
These include increase of awareness among others. There is also some emphasis on complications related sickle cell anemia. From the research, one can get a detailed analysis on the effects of sickle cell anemia among African Americans (Hill, 2003). Introduction Sickle-cell anemia or drepanocytic is an autosomal recessive genetic disorder. The disorder is over-dominance, and it has characteristics affecting the structure of the red blood cells. The red blood cells end up assuming an abnormal structure, which is rigid, and sickle shaped. This decreases the cell’s flexibility and leads to…
4 pages (1004 words) Research Paper
Patient Teaching
This is the reason beta blockers are contraindicated in asthma patients. Metoprolol is more selective in choosing its target as compared to other drugs in the same class such as propanolol. Metoprolol is more cardio selective and has minimal effect on bronchioles at low dose, making it suitable for asthma patients. It is still contra indicated in patients suffering from heart failure or heart blocks. Certain drugs, such as cimetidine, flouxitine and ritonavir can interfere with the normal metabolism of beta blockers potentiating their antihypertensive properties. Barbiturates, Rifampicin and…
3 pages (753 words) Research Paper
They are accelerated erythrocyte destruction, blood loss and impaired red blood cell production (Turgeon, 2005, p. 113). Hemolytic Anaemia Hemolytic anaemia is characterized by increase in erythrocyte destruction caused mainly by trapping of cells in sinuses of the spleen or liver and producing a decrease in the normal average life span of the erythrocyte. Bone marrow activity increased as a result would only compensate the loss temporarily. On failure of bone marrow to produce enough erythrocytes to compensate the loss, anaemia develops (Turgeon, 2005, p. 157). The shelf-life of red blood…
3 pages (753 words) Essay
assessing the validity of screening audiological tests in detecting early signs of ototoxicity in cystic fibrosis children
(beta) 0.1307 T-Stat (beta) 4.3063 P-Value (beta) 2e-04 Correlation 0.6181 R-squared 0.382 Result 5: Right Screening HFPTA (X) to Right Diagnostic DPOAE(Y) Y = alpha + beta X Intercept (alpha) 0.037 Slope (beta) 0.563 S.D. (beta) 0.1307 T-Stat (beta) 4.3063 P-Value (beta) 2e-04 Correlation 0.6181 R-squared 0.382 Result 6: Left Screening HFPTA (X) to Left Diagnostic DPOAE(Y) Y = alpha + beta X Intercept (alpha) 0 Slope (beta) 0.6 S.D. (beta) 0.0974 T-Stat (beta) 6.1619 P-Value (beta) 0 Correlation 0.7474 R-squared 0.5586 Result 7:Right Screening DPOAE (X) to Right Screening HFPTA(Y) Y = alpha +…
27 pages (6777 words) Dissertation
The use of Beta-blockers and ACE inhibitors or Endothelin receptor antagonist and ACE inhibitors as combination therapy for hear
on for Beta Blocks 13 Overview of Patient Response to ACE Inhibitors and endothelin receptor combination 14 Patient Factors for combined therapy 15 Beta-blockers and ace inhibitors as combination therapy for heart failure or endothelin receptor antagonist and ace inhibitors as combination therapy for heart failure ABSTRACT Heart failure is classified as a fatal disease that has very high mortality rate among patients, especially those who are not exposed to effective means of therapeutic treatments.
24 pages (6024 words) Dissertation
Betalactam Antibiotics
This review addresses the feasibility of utilizing members of the beta-lactam group of antibiotics in the management of tuberculosis. The first part provides an introduction into the beta-lactam antibiotics as a group, their distinguishing features, their classification, their spectrum of activity, and their mechanism of antibacterial action. Next follows a brief overview of tuberculosis as a disease which poses a peculiar challenge with drug therapy. The literature review section features an extensive overview of current research publications addressing various angles of the question of…
20 pages (5020 words) Essay
there are numerous sequelae that can occur as a result of hemoglobinopathy - everything from retinopathies, cardiomyopathies to Multiple Organ Failure. Choose a potential long-term outcome of the hemoglobinopathies and briefly discuss (2-3 pages) how the
Thalassaemia is a genetic disorder which results from an imbalance in the two proteins chains that produce the hemoglobin molecule which function as oxygen carrying protein in red blood cells. Thalassaemia can lead to severe anemia and death if there is no ongoing treatment. In both disorders the production of hemoglobin is interfered with and can not do its biological work of carrying oxygen to the body. There two different types of thalassaemia namely, alpha and beta thalassaemia. Thalassaemia major refers to people who have inherited more than one copy of genes with genetic changes, while…
2 pages (502 words) Essay
Got a tricky question? Receive an answer from students like you! Try us!