Thalassaemia is a genetic blood disorder characterized by reduced or absent hemoglobin production. It is common globally and a major public health problem in many countries. Prevention is possible through screening potential partners for thalassaemia carrier status prior to marriage and providing counseling to reduce the risk of having an affected child. While treatment has improved the lives of those with the disease, prevention through awareness and use of screening services remains important to reduce the burden of thalassaemia.
Thalassemia Major is defined as an inherited blood disorder in which the affected children are not able to maintain Hemoglobin (Hb) in the normal range
Thalassemia Major is defined as an inherited blood disorder in which the affected children are not able to maintain Hemoglobin (Hb) in the normal range
1• Define anemia and it's genetic bases.2• Describe thalassemia and it's genetic bases.3• What is the molecular defects and pathophysiology of thalassemia 4• Describe the diagnostic test that detect genetic mutation of thalassemia 5• Overview of pre-marital screening test.
Let's know something interesting about sickle cell anemia.
May be you, understand it better affter viewing this slide.
you can find everything (like- History, Etiology, Complications etc.)about SCA.
I hope, you will like it.
Alcohol abuse means having unhealthy or dangerous drinking habits, such as drinking every day or drinking too much at a time. Alcohol abuse can harm your relationships, cause you to miss work, and lead to legal problems such as driving while drunk (intoxicated). When you abuse alcohol, you continue to drink even though you know your drinking is causing problems.
For my final project of my Maymester in Cape Town, I performed a comparative analysis of the importance of corporate social investment in the U.S. and South Africa. I listed the challenges I found and also outlined a solution to mitigate these challenges. That solution is FMG.
1• Define anemia and it's genetic bases.2• Describe thalassemia and it's genetic bases.3• What is the molecular defects and pathophysiology of thalassemia 4• Describe the diagnostic test that detect genetic mutation of thalassemia 5• Overview of pre-marital screening test.
Let's know something interesting about sickle cell anemia.
May be you, understand it better affter viewing this slide.
you can find everything (like- History, Etiology, Complications etc.)about SCA.
I hope, you will like it.
Alcohol abuse means having unhealthy or dangerous drinking habits, such as drinking every day or drinking too much at a time. Alcohol abuse can harm your relationships, cause you to miss work, and lead to legal problems such as driving while drunk (intoxicated). When you abuse alcohol, you continue to drink even though you know your drinking is causing problems.
For my final project of my Maymester in Cape Town, I performed a comparative analysis of the importance of corporate social investment in the U.S. and South Africa. I listed the challenges I found and also outlined a solution to mitigate these challenges. That solution is FMG.
Critical Review on Thalassemia: Types, Symptoms and Treatment by Hamidreza Shirzadfar in Advancements in Bioequivalence & Bioavailability
Thalassemia is a genetic blood disorder where the normal hemoglobin protein is produced in lower amounts than usual and share in common one feature. This means it is passed down from one or both parents through their genes. People with Thalassemia are not able to make enough normal hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of organ in the body; therefore organs are unable to function properly. There are 30 million carriers and approximately 10000 children are born with the disease every year in the world. There are two main classes of thalassemia, Different genes are affected for each type in your body. α and β, in which the α-globin and β-globin genes are involved. In this study we will generally explain thalassemia disease, types of it and its treatment.
https://crimsonpublishers.com/abb/fulltext/ABB.000507.php
Thalassemia is a genetic blood disorder that affects the body's ability to produce hemoglobin, which is needed to carry oxygen in the blood. It can cause anemia and other complications, and is usually inherited from parents who are carriers of the thalassemia gene.
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View all Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal.
Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.
Brief Discussion on Thalassemia.
The content include Definition, classification, C/M, diagnosis and Management, it also include nursing responsibilities.
Thalassemia for medicine students or anyone interested in the disease.
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.
A blood disorder involving lower-than-normal amounts of an oxygen-carrying protein.
Thalassemia is an inherited blood disorder characterized by less oxygen-carrying protein (hemoglobin) and fewer red blood cells in the body than normal.
Symptoms include fatigue, weakness, paleness, and slow growth.
Mild forms may not need treatment. Severe forms may require blood transfusions or a donor stem-cell transplant.
Dental Management Of Patient With Thalassemia.pptxIbrahim Muneim
this seminar prepared by me to help and inform the reader more about dental management of patient with thalassemia in clinical work
thank you for your time and reading my paper
1. 08th of May : World Thalassaemia Day
Screening and marriage counseling
An easy way to prevent Thalassaemia
The marriage is expressed by the most of Sri Lankans as “ Bamba ketoo hati” in their
words. It means that the marriage is decided through unseen powers such as Brahma.
Prior to the marriage, matching of the partners will take place according to their ethnic
and religious concepts too. Nevertheless, this type of matching, is incomplete when the
couple get a new born baby with hereditary disorders. Hence few more matching of
marital partners should be completed to avoid these easily preventable problems.
Thalassaemia represent a higher position in the list of preventable hereditary disorder
through screening , clinical matching and marriage counseling. It has a long history, over
50,000 years in the world. Thalassaemia is derived from a Greek word of ‘ Thalasa’
means ‘sea’ because it was found in a valley south of Italy and Greece covered by the
Mediterranean sea.
The thalassaemias are the commonest inherited haematological disorders and also the
commonest single gene disorders in the world population. It is also a major cause of
mortality and morbidity in South East Asian region. It is a significant burden to the
health services and economy of many countries.
A basic knowledge on blood and anaemia is necessary to understand about thalassaemia.
The blood consists of cells and the liquid part of plasma. The white blood cells, red blood
cells and platelets represent the cellular elements of the blood. A red coloured , oxygen
carrying pigment, called haemoglobin is found in the red blood cells. Haemoglobin is
essential for body metabolism as it carries oxygen to the cells . A person will develop
anaemia, when there is a decrease in the level of haemoglobin in the blood below the
reference level for the age and sex.
This genetic haemotological disorder of thalassaemia is characterized by absent or
decreased production of normal haemoglobin, resulting a anaemia. The haemoglobin
molecule consists of a haem and globin . The protein moiety of globin synthesis is
impaired , as there is a mutation of the genes in thalassaemia. According to these
2. mutations, synthesis of the main globin chains, namely alpha and beta is markedly
reduced. Eventually, it leads to a decreased production of haemoglobin with anaemia.
Then the disease state is named as beta thalassaemia or alpha thalassaemia, depending on
the relevant type of globin chain , production of which is impaired due to this disorder.
There are two forms of thalassaemia, called as thalassaemia major with clinical
manifestations and thalassaemia minor without clinical manifestations. Thalassaemia
major is a severe inherited childhood anaemia in which haemoglobin synthesis is highly
inadequate. These children are normal at birth but become grossly anaemic within the
first year of life with failure to grow, poor feeding, intermittent fever and delay in
improving from recurrent infective illnesses. They need regular blood transfusion in life
to avoid fatal complications and to secure optimum growth and development. As the red
blood cells in the transfused blood are broken down, the iron released from these cells are
accumulated in their body. The overload of iron can damage the vital organs, such as
heart, liver and pancreas to cause heart failure, liver disease and diabetes. Therefore iron
chelation therapy with the drugs such as Desferrioxamine has to be continued
concurrently with blood transfusion to avoid these complications by removing extra iron
from the body.
The persons with thalassaemia minor , known as carriers of thalassaemia are healthy
and normal but some of them can manifest milder degree of anaemia. This carrier stage is
commonly discovered while they are undergoing a test of blood picture for some other
circumstances.
The beta thalassaemia is the most important form of thalassaemia, causing a major
public health problem in many countries. It was estimated that 1.5% of world population
are carriers of beta thalassaemia and around 70,000 beta thalassaemic babies are born
annually. The alpha thalassaemias are commoner than the beta thalassaemias but the
consequent public health problems are less as the mild form of the disease do not produce
major disabilities.
Currently, more than 2500 of childrens are living with thalassaemia major in Sri Lanka.
The highest number of patients are reporting in Kurunagala, Kandy, Anuradhapura and
Badulla districts. About one hundred new patients are accumulating to the total number
annually. The country has to allocate 7% to 10% from total health expenditure for the
clinical management , necessary for these patients. It was stated that the expenditure is
around ten million rupees in managing one thalassaemic patient in lifetime.
If both partners are thalassaemic carriers there will be 25% chance of giving birth to
baby with thalassaemia. If the thalassaemic carrier marry a normal partner there will be
no risk of getting a thalassaemic baby. There is no possibility in having a thalassamic
baby, if marriage between a thalassaemic patient and a normal partner too. Therefore
3. prevention from thalassaemia is not a difficult task if the people are aware about these
simple scientific facts.
The thalassaemia carrier state could be identified by simple blood tests. It is very
important to know whether they are carriers of the disease prior to marriage, especially
when they are living in areas with high prevalence of thalassaemia , such as North
central, North western, Uva, Central and Western provinces of Sri Lanka. The one
essential act to avoid is the marriage between two thalassaemic carriers. As the facilities
in screening for thalassaemia and counseling are currently available provincially, the
public will have the responsibility to use these services wisely.
08th of May marks the World thalassaemia day. It should be noted that the quality of
life of the thalassaemic patients , is improving from day to day with the advances in
treatment. While giving proper care to the people who has developed the disease, every
body should try their level best to prevent from the disease .
Dr.SHANTHA HETTIARACHCHI