THALASSEMIA
PRESENTED BY
“Sir Sanjaykumar M. Vasoya”
{Biotechnologist}
[Owner of Village Education & Health Research Organization.]
Researcher & Consulting of Enhancement of Bioenergy (Zysun Biotech)
Anax Lifescience Pvt. Ltd. (Sub Owner)
R&D Manager for Castor Cultivation & Castor Oil Processing
ETG Agro Processing Africa Ltd
Call: - +245 731865085 (Kenya)
+255 788366219 (Tanzania)
Skype: - sanjuvasoya
Email: - sanjay.etg@gmail.com
Web: http://sanjuvasoya.wordpress.com
CONTENTS
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Introduction
What is Thalassemia ?
Causes Of Thalassemia
Hemoglobin
Types of Thalassemia
Research Related on Thalassemia
Conclusion
References
INTRODUCTION
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Thalassemia is a heterogenous
group of genetic ihherited
disorder which result from a
reduced rate of alpha & beta
thalassemia.
It may have originated over
50,000 year ago. It was
recognized by as clincal entity
by Dr.Thomas Cooley & Dr.
Pears Lee in 1925.
It shows mainly in this area.
What is Thalassemia ?
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People with thalassemia have inherited blood
disorder that cause mild or severer anemia. The
anemia is due to reduced hemoglobin & fewer
red blood cells than normal.
Mild thalassemia usually does not cause any
symptoms. Severe form of thalassemia shows
symptoms such as weakness, pale skin, dark
urine, weight loss, rapid heartbeat & blood in
urine.
CAUSES OF THALASSEMIA
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Thalassemia is caused by variant or missing
genes that affect how the body makes
hemoglobin.
There are many possible combination of variant
genes that cause the various types of
thalassemia.
A person who inherits a thalassemia gene or
genes from one parent and normal genes from
the other parent is a carrier.
HEMOGLOBIN
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Structure : The main hemoglobin in adult human is
hemoglobin A and it containts two alpha and two beta
subunits. The minor hemoglobin gamma and delta
chains instead of beta chains.
Types of thalassemia :
Types of
hemoglobin
Polypeptide Notes
Chains
Hemoglobin A
2 alpha,
2 beta
97% of normal adult
hemoglobin
Hemoglobin A2 2 alpha,
2 delta
2.5% of normal adult
hemoglobin
Hemoglobin F
Normal foetal
hemoglobin
2 alpha,
2 gamma
Hemoglobin Synthesis
Hemoglobin Function :
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Hemoglobin is protein that is carried by red cells. It
picks up oxygen in the lungs and delivers it to
peripheral tissues to maintain the viability of cells.
Hemoglobin Abnormalities:
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1.
2.
These result from following :
Synthesis of an abnormal hemoglobin.
Reduced rate of synthesis of normal alpha or
beta globin chains.
In many cases the abnormality is comletely
silent. The genetic defects of hemoglobin are
most common genetic disorders worldwide.
TYPES OF THALASSEMIA
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Alpha thalassemia
Beta thalassemia
Delta-Beta thalassemia
Thalassemia intermedia
Hemoglobin lepore
Alpha thalassemia
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Gene deletions are responsible for the decrease in or
absence of alpha chains in most of alpha thalassemia.
Types of alpha thalassemia :
Alpha thalassemia major
II. Alpha thalassemia carrier
III. Hemoglobin H disease
IV. Silent alpha thalassemia carrier
I.
Beta Thalassemia :
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Beta thalassemia is caused by a genetic mutation in the
beta-globin gene.
Types of Beta thalassemia :
I.
II.
Beta thalassemia major
Beta thalassemia minor
Beta thalassemia major
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This condition is also known as Mediterranean or Cooley’s
anemia and occurs on average in one in four offsprings if both
parents are carries of beta thalassemia trait. Either no beta chain
or small amounts are synthesized.
Beta thalssemia minor:
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This is common, usually symptomless abnormally
characterized like alpha thalassemia trait.
Treatment of thalassemia:
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Regular blood transfusions are needed to maintain
hemoglobin level .Severe forms of thalassemia are
treated by regular blood transfusions.
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Folic acid is a B vitamin that helps build red blood
cell. People with thalassemia should take folic acid
supplements.
Iron Chelation Therapy uses medicine to remove
excess iron that builds up in the body when a person
has regular blood transfusion. If the iron is not
removed it damages body organs such as heart and
liver.
Bone marrow transplants have cured some cases of
thalassemia. The success rate of it is as high as 95%,
if there is no prior serious organ damage such as
excess deposition of iron.
THALASSEMIA INTERMEDIA
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Thalassemia with clinical features between those
of thalassemia minor and major is called
thalassemia intermedia. It is milder form of
thalassemia that is caused by the inheritance of
one of the more severe thalassemic genes and
one of the milder thalassemic gene.
DELTA-BETA THALASSEMIA:
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The gene controlling delta chain production is
located very close to the beta gene on
chromosome 11. If one gene is deleted then the
other may be affected.
HEMOGLOBIN LEPORE:
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This is an abnormal hemoglobin due to unequal
crossing-over of the β and δ genes to produce a
polypeptide chain consisting of the δ chains at
its amino end and β chain at its carboxyl end.
RESEARCH RELATED ON
THALASSEMIA:
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Researchers are also studying other treatments,
including:
Gene therapy: It may be possible to cure and
unborn child with thalassemia by inserting a
normal gene into the childs stem cells.
Fetal hemoglobin:reasearchers are studying ways
to enhance the production fetal hemoglbin in
people with thalassemia
CONCLUSION :
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The thalassemias are relatively common diseases. Genetic
counseling is paramount, and may even decrease the incidence of
the more serious conditions .Most children tolerate the anemia
quite well and do not require any interventions.
Thalassemia minor will never go away; people who think they
have thalassemia minor or are at risk should have blood test so
in future they can be aware for themselves in terms of not having
a thalassemia major child. Also by having blood test will help the
community so that, exact number of people who carry
thalassemia minor can be assessed.
Thalassemia major can be cured by bone marrow transplantation
but, rarely will it successes.
REFERENCES:
Website:
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http://www.thalassemia.com
http://www.nucleusinc.com
http://www.geocities.com
http://www.wrongdiagnosis.com
http://www.commeunity.com
http://www.nhbi.nih.gov
Books:
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A.V.HOFFBRAND & J. E.PETTIT Essential Hematology(3rd edition) page
no97-110
EMMANUEL C. BESA & PATRICIA M. CATALANO & JEFFREY A.
KANT & LEIGH C. JEFFERIES . Hematology page no 116-120